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Signs and Symptoms
  1. Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
  2. Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
  3. Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
  4. Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
  5. Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
  6. Skull/cranial anomalies Microcephaly
  7. Skull/cranial anomalies Microcephaly
  8. Skull/cranial anomalies Microcephaly
  9. Skull/cranial anomalies Microcephaly
  10. Skull/cranial anomalies Microcephaly
  11. Skull/cranial anomalies Microcephaly
  12. Skull/cranial anomalies Microcephaly
  13. Skull/cranial anomalies Trigonocephaly
  14. Skull/cranial anomalies Plagiocephaly
  15. Skull/cranial anomalies Scalp/skull defect
  16. Skull/cranial anomalies Frontal bossing/prominent forehead
  17. Skull/cranial anomalies Frontal bossing/prominent forehead
  18. Face/facial anomalies Triangular face
  19. Face/facial anomalies Hypertelorism
  20. Face/facial anomalies Downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  21. Face/facial anomalies Flat cheek bones/malar hypoplasia
  22. Face/facial anomalies Dental malocclusion
  23. Anomalies of eyes and vision Glaucoma
  24. Anomalies of eyes and vision Pupillary anomalies/mydriasis/myosis/tonic pupil
  25. Anomalies of eyes and vision Anterior chamber anomaly
  26. Anomalies of eyes and vision Coloboma of iris
  27. Anomalies of eyes and vision Corneal clouding/opacity/vascularisation
  28. Anomalies of eyes and vision Corneal clouding/opacity/vascularisation
  29. Anomalies of eyes and vision Microcornea
  30. Anomalies of eyes and vision Cataract/lens opacification
  31. Anomalies of eyes and vision Retinoschisis/retinal/chorioretinal coloboma
  32. Anomalies of eyes and vision Visual loss/blindness/amblyopia
  33. Anomalies of eyes and vision Mild visual loss/impaired visual acuity
  34. Anomalies of eyes and vision Mild visual loss/impaired visual acuity
  35. Anomalies of eyes and vision Mild visual loss/impaired visual acuity
  36. Anomalies of eyes and vision Myopia
  37. Anomalies of eyes and vision Myopia
  38. Anomalies of eyes and vision Diplopia/double vision
  39. Anomalies of eyes and vision Abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  40. Anomalies of eyes and vision Strabismus/squint
  41. Anomalies of eyes and vision Strabismus/squint
  42. Anomalies of eyes and vision Strabismus/squint
  43. Anomalies of eyes and vision Strabismus/squint
  44. Anomalies of eyes and vision Nystagmus
  45. Anomalies of eyes and vision Nystagmus
  46. Anomalies of eyes and vision Nystagmus
  47. Anomalies of eyes and vision Oculomotor apraxia/dyspraxia
  48. Anomalies of eyes and vision Oculomotor apraxia/dyspraxia
  49. Eyebrows anomalies Lateral thinning of eyebrows
  50. Anomalies of eyelids, eyelashes and lacrimal system Blepharophimosis/short palpebral fissures
  51. Anomalies of eyelids, eyelashes and lacrimal system Blepharophimosis/short palpebral fissures
  52. Anomalies of eyelids, eyelashes and lacrimal system Epicanthic folds
  53. Anomalies of eyelids, eyelashes and lacrimal system Long/thick/curved lashes/trichomegaly/polytrichia
  54. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Broad nose/nasal bridge
  55. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Flattened nose
  56. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Short columella/depressed nasal tip
  57. Macrostomia/big mouth Exaggerated cupid bows
  58. Macrostomia/big mouth Philtrum deeply grooved
  59. Palate anomalies High vaulted/narrow palate
  60. Palate anomalies High vaulted/narrow palate
  61. Palate anomalies High vaulted/narrow palate
  62. Palate anomalies Cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  63. Anomalies of teeth and dentition Complete/partial microdontia
  64. Anomalies of teeth and dentition Supernumerary teeth/polyodontia
  65. Anomalies of teeth and dentition Enamel anomaly
  66. Anomalies of teeth and dentition Enamel anomaly
  67. Anomalies of teeth and dentition Multiple caries
  68. Anomalies of ear and hearing Low set ears/posteriorly rotated ears
  69. Anomalies of ear and hearing Low set ears/posteriorly rotated ears
  70. Anomalies of ear and hearing Folded helix
  71. Anomalies of ear and hearing Helix thickened/sculpted
  72. Anomalies of ear and hearing Thick/wide ear lobe
  73. Anomalies of ear and hearing Tinnitus
  74. Anomalies of ear and hearing Dizziness
  75. Anomalies of ear and hearing Dizziness
  76. Anomalies of ear and hearing Sensorineural deafness/hearing loss
  77. Anomalies of ear and hearing Sensorineural deafness/hearing loss
  78. Anomalies of ear and hearing Conductive deafness/hearing loss
  79. Anomalies of ear and hearing Central deafness/hearing loss
  80. Anomalies of ear and hearing Chronic/relapsing otitis
  81. Anomalies of the neck Short neck
  82. Clavicle absent/abnormal Pectus carinatum
  83. Anomalies of spine, vertebrae and pelvis Kyphosis
  84. Anomalies of spine, vertebrae and pelvis Lordosis
  85. Anomalies of spine, vertebrae and pelvis Spina bifida occulta
  86. Anomalies of spine, vertebrae and pelvis Intervertebral disk herniation
  87. Anomalies of spine, vertebrae and pelvis Sacral sinus/dimple
  88. Anomalies of spine, vertebrae and pelvis Sacral sinus/dimple
  89. Upper limb segmental anomalies Flat palm
  90. Upper limb segmental anomalies Irregular length/shape of fingers
  91. Upper limb segmental anomalies Tapered fingers
  92. Upper limb segmental anomalies Clinodactyly of fifth finger
  93. Lower limb segmental anomalies Flat foot
  94. Lower limb segmental anomalies Irregular length/shape of toes
  95. Lower limb segmental anomalies Irregular length/shape of toes
  96. Anomalies of skin, subcutaneous tissue and mucosae Hyperhidrosis/increased sweating
  97. Anomalies of skin, subcutaneous tissue and mucosae Hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  98. Anomalies of skin, subcutaneous tissue and mucosae Hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  99. Anomalies of skin, subcutaneous tissue and mucosae Striae
  100. Anomalies of skin, subcutaneous tissue and mucosae Abnormal scarring/cheloids/hypertrophic scars
  101. Anomalies of skin, subcutaneous tissue and mucosae Skin photosensitivity
  102. Anomalies of skin, subcutaneous tissue and mucosae Skin photosensitivity
  103. Anomalies of skin, subcutaneous tissue and mucosae Eczema
  104. Anomalies of skin, subcutaneous tissue and mucosae Eczema
  105. Anomalies of skin, subcutaneous tissue and mucosae Eczema
  106. Anomalies of skin, subcutaneous tissue and mucosae Thin skin
  107. Anomalies of skin, subcutaneous tissue and mucosae Cafe-au-lait spot
  108. Anomalies of skin, subcutaneous tissue and mucosae Cafe-au-lait spot
  109. Hair and scalp anomalies Hirsutism/hypertrichosis/Increased body hair
  110. Hair and scalp anomalies Hirsutism/hypertrichosis/Increased body hair
  111. Hair and scalp anomalies slow growth of the hair
  112. Hair and scalp anomalies Abnormal fall of hair
  113. Hair and scalp anomalies Abnormal fall of hair
  114. Hair and scalp anomalies Fine hair
  115. Hair and scalp anomalies Fine hair
  116. Hair and scalp anomalies Low hair line (back)
  117. Hair and scalp anomalies Low hair line (back)
  118. Hair and scalp anomalies High hair line (front)/widow peak
  119. Hair and scalp anomalies High hair line (front)/widow peak
  120. Hair and scalp anomalies Hypersensibility of scalp/scalp tenderness
  121. Hair and scalp anomalies Scalp cyst/giant nevus
  122. Structural anomalies of the digestive tract Tonsil anomaly/hypertrophy/adenoiditis
  123. Structural anomalies of the digestive tract Tonsil anomaly/hypertrophy/adenoiditis
  124. Structural anomalies of the digestive tract Microgastria
  125. Structural anomalies of the digestive tract Intestinal/gut/bowel malrotation
  126. Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  127. Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  128. Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  129. Functional anomalies of the digestive system Halitosis/bad breath
  130. Functional anomalies of the digestive system Nausea/vomiting/regurgitation/merycism/hyperemesis
  131. Functional anomalies of the digestive system Nausea/vomiting/regurgitation/merycism/hyperemesis
  132. Functional anomalies of the digestive system Nausea/vomiting/regurgitation/merycism/hyperemesis
  133. Functional anomalies of the digestive system Epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  134. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  135. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  136. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  137. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  138. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  139. Functional anomalies of the digestive system Acute abdominal pain/colic
  140. Functional anomalies of the digestive system Acute abdominal pain/colic
  141. Functional anomalies of the digestive system Acute abdominal pain/colic
  142. Functional anomalies of the digestive system Acute abdominal pain/colic
  143. Functional anomalies of the digestive system Intestinal transit disorder
  144. Functional anomalies of the digestive system Malabsorption/chronic diarrhea/steatorrhea
  145. Functional anomalies of the digestive system Acute diarrhea
  146. Functional anomalies of the digestive system Mucous stools/acholic stools
  147. Functional anomalies of the digestive system Mucous stools/acholic stools
  148. Functional anomalies of the digestive system Encopresis/fecal incontinence
  149. Functional anomalies of the digestive system Constipation
  150. Functional anomalies of the digestive system Constipation
  151. Functional anomalies of the digestive system Constipation
  152. Functional anomalies of the digestive system Constipation
  153. Functional anomalies of the digestive system Constipation
  154. Functional anomalies of the digestive system Constipation
  155. Functional anomalies of the digestive system Constipation
  156. Functional anomalies of the digestive system Functional colopathy/irritable bowel syndrome
  157. Structural anomalies of the respiratory system and diaphragm Larynx/laryngeal stenosis/atresia
  158. Functional anomalies of the respiratory system and diaphragm Thoracic/chest pain
  159. Functional anomalies of the respiratory system and diaphragm Respiratory distress/dyspnea/respiratory failure/lung volume reduction
  160. Functional anomalies of the respiratory system and diaphragm Asthma/bronchospasm
  161. Functional anomalies of the respiratory system and diaphragm Chronic hiccup
  162. Functional anomalies of the respiratory system and diaphragm Abnormal cry/voice/phonation disorder/nasal speech
  163. Functional anomalies of the respiratory system and diaphragm Bronchiolitis
  164. Functional anomalies of the respiratory system and diaphragm Repeat respiratory infections
  165. Structural anomalies of the cardio-circulatory system Pulmonary valve atresia/stenosis/narrowing
  166. Structural anomalies of the cardio-circulatory system Atrial septal defect/interauricular communication
  167. Structural anomalies of the cardio-circulatory system Cardiomyopathy/hypertrophic/dilated
  168. Structural anomalies of the cardio-circulatory system Cardiomyopathy/hypertrophic/dilated
  169. Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
  170. Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
  171. Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
  172. Functional anomalies of the cardio-circulatory system Heart/cardiac failure
  173. Functional anomalies of the cardio-circulatory system Hypotension
  174. Structural anomalies of the kidney and the urinary tract Agenesis/hypoplasia/aplasia of kidneys
  175. Structural anomalies of the kidney and the urinary tract Agenesis/hypoplasia/aplasia of kidneys
  176. Structural anomalies of the kidney and the urinary tract Vesicorenal/vesicoureteral reflux
  177. Functional anomalies of the kidney and the urinary tract Urinary/renal lithiasis/kidney stones/nephritic colic
  178. Functional anomalies of the kidney and the urinary tract Recurrent urinary infections
  179. Functional anomalies of the kidney and the urinary tract Pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  180. Functional anomalies of the kidney and the urinary tract Abnormal colour of the urine/cholic/dark urines
  181. Functional anomalies of the kidney and the urinary tract Abnormal colour of the urine/cholic/dark urines
  182. Functional anomalies of the kidney and the urinary tract Abnormal odour of the urine
  183. Functional anomalies of the kidney and the urinary tract Abnormal odour of the urine
  184. Structural anomalies of the genital system Abnormal/polycystic ovaries
  185. Structural anomalies of the genital system Abnormal/polycystic ovaries
  186. Structural anomalies of the genital system Undescended/ectopic testes/cryptorchidia/unfixed testes
  187. Anomalies of the endocrine glands Hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  188. Anomalies of the endocrine glands Hypothyroidy
  189. Anomalies of the endocrine glands Primary amenorrhea
  190. Structural anomalies of the nervous system Syringomelia
  191. Structural anomalies of the nervous system Cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  192. Structural anomalies of the nervous system Communicating hydrocephaly
  193. Structural anomalies of the nervous system Dandy-Walker anomaly
  194. Structural anomalies of the nervous system Cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  195. Structural anomalies of the nervous system Cranial nerve anomalies
  196. Structural anomalies of the nervous system Cerebral vascular anomalies
  197. Structural anomalies of the nervous system Intracranial/cerebral calcifications
  198. Functional anomalies of the nervous system Dysautonomia/autonomous nervous sytem anomalies
  199. Functional anomalies of the nervous system Retrobulbar optic neuritis
  200. Functional anomalies of the nervous system Incessant startle response to noise
  201. Functional anomalies of the nervous system Incessant startle response to noise
  202. Functional anomalies of the nervous system Facial pain/cephalalgia/migraine
  203. Functional anomalies of the nervous system Cranial hypertension
  204. Functional anomalies of the nervous system EEG anomalies
  205. Functional anomalies of the nervous system EEG anomalies
  206. Functional anomalies of the nervous system EEG anomalies
  207. Functional anomalies of the nervous system EEG anomalies
  208. Functional anomalies of the nervous system EEG anomalies
  209. Functional anomalies of the nervous system EEG anomalies
  210. Functional anomalies of the nervous system Encephalitis
  211. Functional anomalies of the nervous system Sphincter dysfunction
  212. Functional anomalies of the nervous system Sphincter dysfunction
  213. Functional anomalies of the nervous system Abnormal gait
  214. Functional anomalies of the nervous system Abnormal gait
  215. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  216. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  217. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  218. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  219. Functional anomalies of the nervous system Tremor
  220. Functional anomalies of the nervous system Tremor
  221. Functional anomalies of the nervous system Tremor
  222. Functional anomalies of the nervous system Tremor
  223. Functional anomalies of the nervous system Tremor
  224. Functional anomalies of the nervous system Dystonia/torticollis/writer's cramp/blepharospasms
  225. Functional anomalies of the nervous system Myoclonus/fasciculations
  226. Functional anomalies of the nervous system Myoclonus/fasciculations
  227. Functional anomalies of the nervous system Myoclonus/fasciculations
  228. Functional anomalies of the nervous system Tics/stereotypias
  229. Functional anomalies of the nervous system Tics/stereotypias
  230. Functional anomalies of the nervous system Hypotonia
  231. Functional anomalies of the nervous system Hypotonia
  232. Functional anomalies of the nervous system Hypotonia
  233. Functional anomalies of the nervous system Hypotonia
  234. Functional anomalies of the nervous system Hypotonia
  235. Functional anomalies of the nervous system Hypotonia
  236. Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
  237. Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
  238. Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
  239. Functional anomalies of the nervous system Hypereflexia
  240. Functional anomalies of the nervous system Hypereflexia
  241. Functional anomalies of the nervous system Hemiplegia/diplegia/hemiparesia/limb palsy
  242. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  243. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  244. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  245. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  246. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  247. Functional anomalies of the nervous system Insensitivity to pain
  248. Functional anomalies of the nervous system Paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  249. Functional anomalies of the nervous system Somnolence/hypersomnia/parasomnia
  250. Functional anomalies of the nervous system Somnolence/hypersomnia/parasomnia
  251. Functional anomalies of the nervous system Insomnia
  252. Functional anomalies of the nervous system Insomnia
  253. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  254. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  255. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  256. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  257. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  258. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  259. Functional anomalies of the nervous system Elocution disorders/dysarthria/dysphonia
  260. Functional anomalies of the nervous system Alexia/agraphia/writing/reading troubles
  261. Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
  262. Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
  263. Functional anomalies of the nervous system Psychic/psychomotor regression/dementia/intellectual decline
  264. Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
  265. Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
  266. Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
  267. Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
  268. Functional anomalies of the nervous system Hyperactivity/attention deficit
  269. Functional anomalies of the nervous system Hyperactivity/attention deficit
  270. Functional anomalies of the nervous system Hyperactivity/attention deficit
  271. Functional anomalies of the nervous system Visual/auditory/tactile agnosia/propopagnosia/simultagnosia
  272. Functional anomalies of the nervous system Autism/autistic disoders
  273. Functional anomalies of the nervous system Autism/autistic disoders
  274. Functional anomalies of the nervous system Autism/autistic disoders
  275. Functional anomalies of the nervous system Delirium/hallucination
  276. Functional anomalies of the nervous system Humour troubles/anxiety/depression/apathy/euphoria/irritability
  277. Functional anomalies of the nervous system Humour troubles/anxiety/depression/apathy/euphoria/irritability
  278. Functional anomalies of the nervous system Psychosis/schizophrenia/maniac disorder
  279. Functional anomalies of the nervous system Psychosis/schizophrenia/maniac disorder
  280. Functional anomalies of the nervous system Auto-aggressivity/auto-mutilation
  281. Muscle anomalies Myopathy
  282. Muscle anomalies Muscle weakness/flaccidity
  283. Muscle anomalies Muscle weakness/flaccidity
  284. Muscle anomalies Muscle weakness/flaccidity
  285. Muscle anomalies Muscle weakness/flaccidity
  286. Muscle anomalies Muscle weakness/flaccidity
  287. Muscle anomalies Muscle weakness/flaccidity
  288. Muscle anomalies Myalgia/muscular pain
  289. Muscle anomalies Myalgia/muscular pain
  290. Muscle anomalies Abnormal EMG/electromyogram/electropmyography
  291. Anomalies of bones/skeletal anomalies Bone cyst
  292. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  293. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  294. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  295. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  296. Anomalies of cartilages, joints and periarticular tissue Arthritis/synovitis/synovial proliferation
  297. Anomalies of cartilages, joints and periarticular tissue Musculo-tendinous retractions
  298. Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
  299. Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
  300. Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
  301. Anomalies of cartilages, joints and periarticular tissue Hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  302. Anomalies of the immunitary system Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency
  303. Anomalies of the immunitary system Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency
  304. Anomalies of the immunitary system Hypergammaglobulinemia
  305. Anomalies of the immunitary system Autoimmunity/autoimmune reaction/autoantibodies
  306. Anomalies of the hematological system Thrombocytopenia/thrombopenia
  307. Anomalies of the hematological system Hematomas
  308. Anomalies of the hematological system Gingivorrhagia/gingival bleeding
  309. Metabolic anomalies Metabolic decompensation
  310. Metabolic anomalies Respiratory chain /mitochondrial anomalies
  311. Metabolic anomalies Vitamin B12 deficiency
  312. Metabolic anomalies Vitamin D deficiency
  313. Neoplasms/tumors Neuroendocrine tumor/apudoma/carcinoid
  314. Chromosomal or genetic anomaly Autosomal dominant inheritance
  315. Chromosomal or genetic anomaly Autosomal dominant inheritance
  316. Chromosomal or genetic anomaly Insterstitial/subtelomeric microdeletion/deletion
  317. Chromosomal or genetic anomaly Genomic imprinting anomaly
  318. Build/stature/longevity anomalies Generalized obesity
  319. Build/stature/longevity anomalies Short stature/dwarfism/nanism
  320. Build/stature/longevity anomalies Short stature/dwarfism/nanism
  321. Build/stature/longevity anomalies Short stature/dwarfism/nanism
  322. Build/stature/longevity anomalies Asymmetry of the body/hemiatrophy/hemihyperthrophy
  323. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  324. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  325. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  326. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  327. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  328. Health status anomalies Fever/chilling
  329. Health status anomalies Thirst
  330. Health status anomalies Asthenia/fatigue/weakness
  331. Health status anomalies Asthenia/fatigue/weakness
  332. Health status anomalies Pallor
  333. Health status anomalies Hot flushes/sensation of cold
  334. Antenatal period/pregnancy anomalies Intrauterine growth retardation
  335. Antenatal period/pregnancy anomalies Maternal seizures
  336. Skull/cranial anomalies Macrocephaly/macrocrania/megalocephaly/megacephaly
  337. Skull/cranial anomalies Microcephaly
  338. Skull/cranial anomalies Microcephaly
  339. Skull/cranial anomalies Frontal bossing/prominent forehead
  340. Face/facial anomalies Triangular face
  341. Face/facial anomalies Hypertelorism
  342. Face/facial anomalies Upslanted palpebral fissures/mongoloid slanting palpebral fissures
  343. Face/facial anomalies Downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  344. Face/facial anomalies Flat supraorbital ridge
  345. Face/facial anomalies Micrognathia/retrognathia/micrognathism/retrognathism
  346. Face/facial anomalies Dental malocclusion
  347. Face/facial anomalies Limited opening of the mouth
  348. Anomalies of eyes and vision Brushfield spots
  349. Anomalies of eyes and vision Coloboma of the optic nerve
  350. Anomalies of eyes and vision Myopia
  351. Anomalies of eyes and vision Astigmatism
  352. Eyebrows anomalies Thick/bushy eyebrows
  353. Eyebrows anomalies Darker than expected eyebrows
  354. Anomalies of eyelids, eyelashes and lacrimal system Ptosis
  355. Anomalies of eyelids, eyelashes and lacrimal system Epicanthic folds
  356. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Broad nose/nasal bridge
  357. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Short/small nose
  358. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Flattened nose
  359. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Anteverted nares/nostrils
  360. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Small/triangular nares/nostrils
  361. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Short columella/depressed nasal tip
  362. Macrostomia/big mouth Microstomia/little mouth
  363. Macrostomia/big mouth Thin/retracted lips
  364. Macrostomia/big mouth Everted lower lip
  365. Macrostomia/big mouth Philtrum flat/large/featureless/absent cupidon bows
  366. Palate anomalies High vaulted/narrow palate
  367. Palate anomalies Cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  368. Anomalies of teeth and dentition Tooth shape anomaly
  369. Anomalies of teeth and dentition Enamel anomaly
  370. Anomalies of teeth and dentition Enamel anomaly
  371. Anomalies of teeth and dentition Multiple caries
  372. Anomalies of ear and hearing Low set ears/posteriorly rotated ears
  373. Anomalies of ear and hearing Low set ears/posteriorly rotated ears
  374. Anomalies of ear and hearing Long/large ear
  375. Anomalies of ear and hearing Thick/wide ear lobe
  376. Anomalies of ear and hearing Structural anomalies of middle ear/ossicles/tympanic cavity
  377. Anomalies of ear and hearing Dizziness
  378. Anomalies of the neck Short neck
  379. Clavicle absent/abnormal Narrow/sloping shoulders
  380. Clavicle absent/abnormal Flared chest/bell-shaped thorax/shield chest
  381. Clavicle absent/abnormal Abnormally placed nipples
  382. Anomalies of spine, vertebrae and pelvis Scoliosis
  383. Anomalies of spine, vertebrae and pelvis Scoliosis
  384. Upper limb segmental anomalies Irregular length/shape of fingers
  385. Upper limb segmental anomalies Tapered fingers
  386. Upper limb segmental anomalies Clinodactyly of fifth finger
  387. Lower limb segmental anomalies Flat foot
  388. Lower limb segmental anomalies Flat foot
  389. Lower limb segmental anomalies Claw toes/retracted toes
  390. Anomalies of skin, subcutaneous tissue and mucosae Hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  391. Anomalies of skin, subcutaneous tissue and mucosae Seborrhea/hyperseborrhea/seborrheic dermatitis
  392. Anomalies of skin, subcutaneous tissue and mucosae Abnormal scarring/cheloids/hypertrophic scars
  393. Anomalies of skin, subcutaneous tissue and mucosae Abnormal scarring/cheloids/hypertrophic scars
  394. Anomalies of skin, subcutaneous tissue and mucosae Abnormal scarring/cheloids/hypertrophic scars
  395. Anomalies of skin, subcutaneous tissue and mucosae Eczema
  396. Anomalies of skin, subcutaneous tissue and mucosae Eczema
  397. Anomalies of skin, subcutaneous tissue and mucosae Urticaria
  398. Anomalies of skin, subcutaneous tissue and mucosae Irregular/patchy skin hypopigmentation
  399. Anomalies of skin, subcutaneous tissue and mucosae Diffuse/generalised skin hyperpigmentation/melanoderma
  400. Anomalies of skin, subcutaneous tissue and mucosae Pigmented naevi/naevus pigmentosus/lentigo
  401. Anomalies of skin, subcutaneous tissue and mucosae Cafe-au-lait spot
  402. Anomalies of skin, subcutaneous tissue and mucosae Cafe-au-lait spot
  403. Hair and scalp anomalies slow growth of the hair
  404. Hair and scalp anomalies Fine hair
  405. Hair and scalp anomalies Low hair line (back)
  406. Hair and scalp anomalies High hair line (front)/widow peak
  407. Hair and scalp anomalies Thick scalp/scalp dysplasia
  408. Nails anomalies Thin/hypoplastic/hyperconvex fingernails
  409. Nails anomalies Thin/hypoplastic/hyperconvex fingernails
  410. Nails anomalies Thin/hypoplastic toenails
  411. Nails anomalies Thin/hypoplastic toenails
  412. Structural anomalies of the digestive tract Respiratory-digestive intersection/aero-digestive cross-roads anomaly
  413. Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  414. Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  415. Functional anomalies of the digestive system Nausea/vomiting/regurgitation/merycism/hyperemesis
  416. Functional anomalies of the digestive system Epigastralgia/heartburn/gastric/duodenal ulcer/gastritis
  417. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  418. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  419. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  420. Functional anomalies of the digestive system Acute abdominal pain/colic
  421. Functional anomalies of the digestive system Constipation
  422. Functional anomalies of the digestive system Constipation
  423. Functional anomalies of the digestive system Constipation
  424. Functional anomalies of the digestive system Functional colopathy/irritable bowel syndrome
  425. Structural anomalies of the respiratory system and diaphragm Laryngomalacia
  426. Functional anomalies of the respiratory system and diaphragm Asthma/bronchospasm
  427. Functional anomalies of the respiratory system and diaphragm Asthma/bronchospasm
  428. Functional anomalies of the respiratory system and diaphragm Chronic hiccup
  429. Functional anomalies of the respiratory system and diaphragm Repeat respiratory infections
  430. Functional anomalies of the respiratory system and diaphragm Repeat respiratory infections
  431. Structural anomalies of the cardio-circulatory system Pulmonary valve atresia/stenosis/narrowing
  432. Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
  433. Functional anomalies of the cardio-circulatory system Bruisability
  434. Structural anomalies of the nervous system Communicating hydrocephaly
  435. Functional anomalies of the nervous system Incessant startle response to noise
  436. Functional anomalies of the nervous system EEG anomalies
  437. Functional anomalies of the nervous system EEG anomalies
  438. Functional anomalies of the nervous system EEG anomalies
  439. Functional anomalies of the nervous system EEG anomalies
  440. Functional anomalies of the nervous system Abnormal gait
  441. Functional anomalies of the nervous system Abnormal gait
  442. Functional anomalies of the nervous system Abnormal gait
  443. Functional anomalies of the nervous system Abnormal gait
  444. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  445. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  446. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  447. Functional anomalies of the nervous system Hyperkinesia/dyskinesia
  448. Functional anomalies of the nervous system Tremor
  449. Functional anomalies of the nervous system Chorea/athetosis/choreoathetosis/choreic syndrome
  450. Functional anomalies of the nervous system Dystonia/torticollis/writer's cramp/blepharospasms
  451. Functional anomalies of the nervous system Execution movement disorder/dysmetria/bradykinesia/akinesia/apraxia
  452. Functional anomalies of the nervous system Hypotonia
  453. Functional anomalies of the nervous system Hypotonia
  454. Functional anomalies of the nervous system Hypotonia
  455. Functional anomalies of the nervous system Hypotonia
  456. Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
  457. Functional anomalies of the nervous system Hypereflexia
  458. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  459. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  460. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  461. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  462. Functional anomalies of the nervous system Insensitivity to pain
  463. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  464. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  465. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  466. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  467. Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
  468. Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
  469. Functional anomalies of the nervous system Hyperactivity/attention deficit
  470. Functional anomalies of the nervous system Autism/autistic disoders
  471. Functional anomalies of the nervous system Autism/autistic disoders
  472. Functional anomalies of the nervous system Humour troubles/anxiety/depression/apathy/euphoria/irritability
  473. Muscle anomalies Muscle weakness/flaccidity
  474. Muscle anomalies Muscle weakness/flaccidity
  475. Muscle anomalies Muscle weakness/flaccidity
  476. Muscle anomalies Myalgia/muscular pain
  477. Anomalies of bones/skeletal anomalies Bone/osseous hypoplasia
  478. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  479. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  480. Anomalies of cartilages, joints and periarticular tissue Restricted joint mobility/joint stiffness/ankylosis
  481. Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
  482. Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
  483. Anomalies of cartilages, joints and periarticular tissue Chondritis/cartilage inflammation
  484. Anomalies of cartilages, joints and periarticular tissue Enthesis anomaly/inflammation/enthesitis/enthesopathy
  485. Anomalies of the immunitary system Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency
  486. Anomalies of the immunitary system T-cell deficiency/cellular immunity deficiency
  487. Anomalies of the immunitary system Severe allergic reaction/atopy
  488. Anomalies of the hematological system Ferropenic anemia
  489. Anomalies of the hematological system Platelets shape anomalies
  490. Neoplasms/tumors Mastocytosis
  491. Chromosomal or genetic anomaly Autosomal recessive inheritance
  492. Chromosomal or genetic anomaly Total/partial trisomy/duplication
  493. Chromosomal or genetic anomaly Total/partial trisomy/duplication
  494. Build/stature/longevity anomalies Short stature/dwarfism/nanism
  495. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  496. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  497. Health status anomalies Asthenia/fatigue/weakness
  498. Health status anomalies Pallor