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