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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 Frontal bossing/prominent forehead
  16. Skull/cranial anomalies Frontal bossing/prominent forehead
  17. Face/facial anomalies Triangular face
  18. Face/facial anomalies Hypertelorism
  19. Face/facial anomalies Downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  20. Face/facial anomalies Flat cheek bones/malar hypoplasia
  21. Face/facial anomalies Dental malocclusion
  22. Anomalies of eyes and vision Glaucoma
  23. Anomalies of eyes and vision Anterior chamber anomaly
  24. Anomalies of eyes and vision Coloboma of iris
  25. Anomalies of eyes and vision Corneal clouding/opacity/vascularisation
  26. Anomalies of eyes and vision Corneal clouding/opacity/vascularisation
  27. Anomalies of eyes and vision Microcornea
  28. Anomalies of eyes and vision Cataract/lens opacification
  29. Anomalies of eyes and vision Retinoschisis/retinal/chorioretinal coloboma
  30. Anomalies of eyes and vision Visual loss/blindness/amblyopia
  31. Anomalies of eyes and vision Mild visual loss/impaired visual acuity
  32. Anomalies of eyes and vision Mild visual loss/impaired visual acuity
  33. Anomalies of eyes and vision Myopia
  34. Anomalies of eyes and vision Diplopia/double vision
  35. Anomalies of eyes and vision Strabismus/squint
  36. Anomalies of eyes and vision Strabismus/squint
  37. Anomalies of eyes and vision Strabismus/squint
  38. Anomalies of eyes and vision Strabismus/squint
  39. Anomalies of eyes and vision Nystagmus
  40. Anomalies of eyes and vision Nystagmus
  41. Anomalies of eyes and vision Nystagmus
  42. Anomalies of eyes and vision Oculomotor apraxia/dyspraxia
  43. Eyebrows anomalies Lateral thinning of eyebrows
  44. Anomalies of eyelids, eyelashes and lacrimal system Blepharophimosis/short palpebral fissures
  45. Anomalies of eyelids, eyelashes and lacrimal system Blepharophimosis/short palpebral fissures
  46. Anomalies of eyelids, eyelashes and lacrimal system Epicanthic folds
  47. Anomalies of eyelids, eyelashes and lacrimal system Long/thick/curved lashes/trichomegaly/polytrichia
  48. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Broad nose/nasal bridge
  49. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Flattened nose
  50. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Short columella/depressed nasal tip
  51. Macrostomia/big mouth Exaggerated cupid bows
  52. Macrostomia/big mouth Philtrum deeply grooved
  53. Palate anomalies High vaulted/narrow palate
  54. Palate anomalies High vaulted/narrow palate
  55. Palate anomalies High vaulted/narrow palate
  56. Palate anomalies Cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  57. Anomalies of teeth and dentition Complete/partial microdontia
  58. Anomalies of teeth and dentition Supernumerary teeth/polyodontia
  59. Anomalies of teeth and dentition Enamel anomaly
  60. Anomalies of teeth and dentition Multiple caries
  61. Anomalies of ear and hearing Low set ears/posteriorly rotated ears
  62. Anomalies of ear and hearing Low set ears/posteriorly rotated ears
  63. Anomalies of ear and hearing Folded helix
  64. Anomalies of ear and hearing Helix thickened/sculpted
  65. Anomalies of ear and hearing Thick/wide ear lobe
  66. Anomalies of ear and hearing Dizziness
  67. Anomalies of ear and hearing Sensorineural deafness/hearing loss
  68. Anomalies of ear and hearing Sensorineural deafness/hearing loss
  69. Anomalies of ear and hearing Conductive deafness/hearing loss
  70. Anomalies of ear and hearing Central deafness/hearing loss
  71. Anomalies of ear and hearing Chronic/relapsing otitis
  72. Anomalies of the neck Short neck
  73. Anomalies of spine, vertebrae and pelvis Kyphosis
  74. Anomalies of spine, vertebrae and pelvis Lordosis
  75. Anomalies of spine, vertebrae and pelvis Spina bifida occulta
  76. Anomalies of spine, vertebrae and pelvis Sacral sinus/dimple
  77. Anomalies of spine, vertebrae and pelvis Sacral sinus/dimple
  78. Upper limb segmental anomalies Tapered fingers
  79. Upper limb segmental anomalies Clinodactyly of fifth finger
  80. Lower limb segmental anomalies Irregular length/shape of toes
  81. Anomalies of skin, subcutaneous tissue and mucosae Hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  82. Anomalies of skin, subcutaneous tissue and mucosae Skin photosensitivity
  83. Anomalies of skin, subcutaneous tissue and mucosae Eczema
  84. Anomalies of skin, subcutaneous tissue and mucosae Eczema
  85. Anomalies of skin, subcutaneous tissue and mucosae Eczema
  86. Anomalies of skin, subcutaneous tissue and mucosae Cafe-au-lait spot
  87. Anomalies of skin, subcutaneous tissue and mucosae Cafe-au-lait spot
  88. Hair and scalp anomalies Hirsutism/hypertrichosis/Increased body hair
  89. Hair and scalp anomalies Hirsutism/hypertrichosis/Increased body hair
  90. Hair and scalp anomalies slow growth of the hair
  91. Hair and scalp anomalies Abnormal fall of hair
  92. Hair and scalp anomalies Fine hair
  93. Hair and scalp anomalies Fine hair
  94. Hair and scalp anomalies Low hair line (back)
  95. Hair and scalp anomalies Low hair line (back)
  96. Hair and scalp anomalies High hair line (front)/widow peak
  97. Hair and scalp anomalies High hair line (front)/widow peak
  98. Hair and scalp anomalies Hypersensibility of scalp/scalp tenderness
  99. Hair and scalp anomalies Scalp cyst/giant nevus
  100. Structural anomalies of the digestive tract Tonsil anomaly/hypertrophy/adenoiditis
  101. Structural anomalies of the digestive tract Microgastria
  102. Structural anomalies of the digestive tract Intestinal/gut/bowel malrotation
  103. Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  104. Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  105. Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  106. Functional anomalies of the digestive system Halitosis/bad breath
  107. Functional anomalies of the digestive system Nausea/vomiting/regurgitation/merycism/hyperemesis
  108. Functional anomalies of the digestive system Nausea/vomiting/regurgitation/merycism/hyperemesis
  109. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  110. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  111. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  112. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  113. Functional anomalies of the digestive system Acute abdominal pain/colic
  114. Functional anomalies of the digestive system Acute abdominal pain/colic
  115. Functional anomalies of the digestive system Acute abdominal pain/colic
  116. Functional anomalies of the digestive system Intestinal transit disorder
  117. Functional anomalies of the digestive system Acute diarrhea
  118. Functional anomalies of the digestive system Mucous stools/acholic stools
  119. Functional anomalies of the digestive system Encopresis/fecal incontinence
  120. Functional anomalies of the digestive system Constipation
  121. Functional anomalies of the digestive system Constipation
  122. Functional anomalies of the digestive system Constipation
  123. Functional anomalies of the digestive system Constipation
  124. Functional anomalies of the digestive system Constipation
  125. Functional anomalies of the digestive system Constipation
  126. Structural anomalies of the respiratory system and diaphragm Larynx/laryngeal stenosis/atresia
  127. Functional anomalies of the respiratory system and diaphragm Respiratory distress/dyspnea/respiratory failure/lung volume reduction
  128. Functional anomalies of the respiratory system and diaphragm Asthma/bronchospasm
  129. Functional anomalies of the respiratory system and diaphragm Chronic hiccup
  130. Functional anomalies of the respiratory system and diaphragm Abnormal cry/voice/phonation disorder/nasal speech
  131. Functional anomalies of the respiratory system and diaphragm Bronchiolitis
  132. Functional anomalies of the respiratory system and diaphragm Repeat respiratory infections
  133. Structural anomalies of the cardio-circulatory system Pulmonary valve atresia/stenosis/narrowing
  134. Structural anomalies of the cardio-circulatory system Atrial septal defect/interauricular communication
  135. Structural anomalies of the cardio-circulatory system Cardiomyopathy/hypertrophic/dilated
  136. Structural anomalies of the cardio-circulatory system Cardiomyopathy/hypertrophic/dilated
  137. Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
  138. Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
  139. Functional anomalies of the cardio-circulatory system Heart/cardiac failure
  140. Functional anomalies of the cardio-circulatory system Hypotension
  141. Structural anomalies of the kidney and the urinary tract Agenesis/hypoplasia/aplasia of kidneys
  142. Structural anomalies of the kidney and the urinary tract Agenesis/hypoplasia/aplasia of kidneys
  143. Structural anomalies of the kidney and the urinary tract Vesicorenal/vesicoureteral reflux
  144. Functional anomalies of the kidney and the urinary tract Urinary/renal lithiasis/kidney stones/nephritic colic
  145. Functional anomalies of the kidney and the urinary tract Recurrent urinary infections
  146. Functional anomalies of the kidney and the urinary tract Pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  147. Functional anomalies of the kidney and the urinary tract Abnormal colour of the urine/cholic/dark urines
  148. Functional anomalies of the kidney and the urinary tract Abnormal odour of the urine
  149. Structural anomalies of the genital system Abnormal/polycystic ovaries
  150. Structural anomalies of the genital system Abnormal/polycystic ovaries
  151. Structural anomalies of the genital system Undescended/ectopic testes/cryptorchidia/unfixed testes
  152. Anomalies of the endocrine glands Hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  153. Anomalies of the endocrine glands Hypothyroidy
  154. Structural anomalies of the nervous system Syringomelia
  155. Structural anomalies of the nervous system Cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  156. Structural anomalies of the nervous system Communicating hydrocephaly
  157. Structural anomalies of the nervous system Dandy-Walker anomaly
  158. Structural anomalies of the nervous system Cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  159. Structural anomalies of the nervous system Cranial nerve anomalies
  160. Structural anomalies of the nervous system Cerebral vascular anomalies
  161. Structural anomalies of the nervous system Intracranial/cerebral calcifications
  162. Functional anomalies of the nervous system Retrobulbar optic neuritis
  163. Functional anomalies of the nervous system Incessant startle response to noise
  164. Functional anomalies of the nervous system Incessant startle response to noise
  165. Functional anomalies of the nervous system Facial pain/cephalalgia/migraine
  166. Functional anomalies of the nervous system Cranial hypertension
  167. Functional anomalies of the nervous system EEG anomalies
  168. Functional anomalies of the nervous system EEG anomalies
  169. Functional anomalies of the nervous system EEG anomalies
  170. Functional anomalies of the nervous system EEG anomalies
  171. Functional anomalies of the nervous system EEG anomalies
  172. Functional anomalies of the nervous system EEG anomalies
  173. Functional anomalies of the nervous system Encephalitis
  174. Functional anomalies of the nervous system Sphincter dysfunction
  175. Functional anomalies of the nervous system Sphincter dysfunction
  176. Functional anomalies of the nervous system Abnormal gait
  177. Functional anomalies of the nervous system Abnormal gait
  178. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  179. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  180. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  181. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  182. Functional anomalies of the nervous system Tremor
  183. Functional anomalies of the nervous system Tremor
  184. Functional anomalies of the nervous system Tremor
  185. Functional anomalies of the nervous system Tremor
  186. Functional anomalies of the nervous system Dystonia/torticollis/writer's cramp/blepharospasms
  187. Functional anomalies of the nervous system Myoclonus/fasciculations
  188. Functional anomalies of the nervous system Myoclonus/fasciculations
  189. Functional anomalies of the nervous system Tics/stereotypias
  190. Functional anomalies of the nervous system Tics/stereotypias
  191. Functional anomalies of the nervous system Hypotonia
  192. Functional anomalies of the nervous system Hypotonia
  193. Functional anomalies of the nervous system Hypotonia
  194. Functional anomalies of the nervous system Hypotonia
  195. Functional anomalies of the nervous system Hypotonia
  196. Functional anomalies of the nervous system Hypotonia
  197. Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
  198. Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
  199. Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
  200. Functional anomalies of the nervous system Hypereflexia
  201. Functional anomalies of the nervous system Hemiplegia/diplegia/hemiparesia/limb palsy
  202. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  203. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  204. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  205. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  206. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  207. Functional anomalies of the nervous system Somnolence/hypersomnia/parasomnia
  208. Functional anomalies of the nervous system Somnolence/hypersomnia/parasomnia
  209. Functional anomalies of the nervous system Insomnia
  210. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  211. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  212. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  213. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  214. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  215. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  216. Functional anomalies of the nervous system Elocution disorders/dysarthria/dysphonia
  217. Functional anomalies of the nervous system Alexia/agraphia/writing/reading troubles
  218. Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
  219. Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
  220. Functional anomalies of the nervous system Psychic/psychomotor regression/dementia/intellectual decline
  221. Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
  222. Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
  223. Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
  224. Functional anomalies of the nervous system Hyperactivity/attention deficit
  225. Functional anomalies of the nervous system Hyperactivity/attention deficit
  226. Functional anomalies of the nervous system Hyperactivity/attention deficit
  227. Functional anomalies of the nervous system Visual/auditory/tactile agnosia/propopagnosia/simultagnosia
  228. Functional anomalies of the nervous system Autism/autistic disoders
  229. Functional anomalies of the nervous system Autism/autistic disoders
  230. Functional anomalies of the nervous system Autism/autistic disoders
  231. Functional anomalies of the nervous system Delirium/hallucination
  232. Functional anomalies of the nervous system Humour troubles/anxiety/depression/apathy/euphoria/irritability
  233. Functional anomalies of the nervous system Psychosis/schizophrenia/maniac disorder
  234. Functional anomalies of the nervous system Psychosis/schizophrenia/maniac disorder
  235. Functional anomalies of the nervous system Auto-aggressivity/auto-mutilation
  236. Muscle anomalies Myopathy
  237. Muscle anomalies Muscle weakness/flaccidity
  238. Muscle anomalies Muscle weakness/flaccidity
  239. Muscle anomalies Muscle weakness/flaccidity
  240. Muscle anomalies Muscle weakness/flaccidity
  241. Muscle anomalies Muscle weakness/flaccidity
  242. Muscle anomalies Myalgia/muscular pain
  243. Muscle anomalies Myalgia/muscular pain
  244. Anomalies of bones/skeletal anomalies Bone cyst
  245. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  246. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  247. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  248. Anomalies of cartilages, joints and periarticular tissue Arthritis/synovitis/synovial proliferation
  249. Anomalies of cartilages, joints and periarticular tissue Musculo-tendinous retractions
  250. Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
  251. Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
  252. Anomalies of cartilages, joints and periarticular tissue Hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  253. Anomalies of the immunitary system Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency
  254. Anomalies of the immunitary system Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency
  255. Anomalies of the immunitary system Hypergammaglobulinemia
  256. Anomalies of the hematological system Thrombocytopenia/thrombopenia
  257. Metabolic anomalies Metabolic decompensation
  258. Metabolic anomalies Respiratory chain /mitochondrial anomalies
  259. Metabolic anomalies Vitamin B12 deficiency
  260. Metabolic anomalies Vitamin D deficiency
  261. Chromosomal or genetic anomaly Autosomal dominant inheritance
  262. Chromosomal or genetic anomaly Autosomal dominant inheritance
  263. Chromosomal or genetic anomaly Insterstitial/subtelomeric microdeletion/deletion
  264. Chromosomal or genetic anomaly Genomic imprinting anomaly
  265. Build/stature/longevity anomalies Generalized obesity
  266. Build/stature/longevity anomalies Short stature/dwarfism/nanism
  267. Build/stature/longevity anomalies Short stature/dwarfism/nanism
  268. Build/stature/longevity anomalies Asymmetry of the body/hemiatrophy/hemihyperthrophy
  269. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  270. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  271. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  272. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  273. Health status anomalies Fever/chilling
  274. Health status anomalies Asthenia/fatigue/weakness
  275. Health status anomalies Pallor
  276. Antenatal period/pregnancy anomalies Intrauterine growth retardation
  277. Antenatal period/pregnancy anomalies Maternal seizures