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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 Strabismus/squint
  35. Anomalies of eyes and vision Strabismus/squint
  36. Anomalies of eyes and vision Strabismus/squint
  37. Anomalies of eyes and vision Nystagmus
  38. Anomalies of eyes and vision Nystagmus
  39. Eyebrows anomalies Lateral thinning of eyebrows
  40. Anomalies of eyelids, eyelashes and lacrimal system Blepharophimosis/short palpebral fissures
  41. Anomalies of eyelids, eyelashes and lacrimal system Blepharophimosis/short palpebral fissures
  42. Anomalies of eyelids, eyelashes and lacrimal system Epicanthic folds
  43. Anomalies of eyelids, eyelashes and lacrimal system Long/thick/curved lashes/trichomegaly/polytrichia
  44. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Broad nose/nasal bridge
  45. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Flattened nose
  46. Nasal atrophy/hypoplasia/arhinia/rudimentary nose Short columella/depressed nasal tip
  47. Macrostomia/big mouth Exaggerated cupid bows
  48. Macrostomia/big mouth Philtrum deeply grooved
  49. Palate anomalies High vaulted/narrow palate
  50. Palate anomalies High vaulted/narrow palate
  51. Palate anomalies Cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  52. Anomalies of teeth and dentition Complete/partial microdontia
  53. Anomalies of teeth and dentition Enamel anomaly
  54. Anomalies of ear and hearing Low set ears/posteriorly rotated ears
  55. Anomalies of ear and hearing Low set ears/posteriorly rotated ears
  56. Anomalies of ear and hearing Folded helix
  57. Anomalies of ear and hearing Helix thickened/sculpted
  58. Anomalies of ear and hearing Thick/wide ear lobe
  59. Anomalies of ear and hearing Sensorineural deafness/hearing loss
  60. Anomalies of ear and hearing Sensorineural deafness/hearing loss
  61. Anomalies of ear and hearing Conductive deafness/hearing loss
  62. Anomalies of ear and hearing Central deafness/hearing loss
  63. Anomalies of ear and hearing Chronic/relapsing otitis
  64. Anomalies of the neck Short neck
  65. Anomalies of spine, vertebrae and pelvis Lordosis
  66. Anomalies of spine, vertebrae and pelvis Spina bifida occulta
  67. Anomalies of spine, vertebrae and pelvis Sacral sinus/dimple
  68. Anomalies of spine, vertebrae and pelvis Sacral sinus/dimple
  69. Upper limb segmental anomalies Tapered fingers
  70. Upper limb segmental anomalies Clinodactyly of fifth finger
  71. Lower limb segmental anomalies Irregular length/shape of toes
  72. Anomalies of skin, subcutaneous tissue and mucosae Eczema
  73. Anomalies of skin, subcutaneous tissue and mucosae Eczema
  74. Anomalies of skin, subcutaneous tissue and mucosae Cafe-au-lait spot
  75. Hair and scalp anomalies Hirsutism/hypertrichosis/Increased body hair
  76. Hair and scalp anomalies Hirsutism/hypertrichosis/Increased body hair
  77. Hair and scalp anomalies slow growth of the hair
  78. Hair and scalp anomalies Fine hair
  79. Hair and scalp anomalies Low hair line (back)
  80. Hair and scalp anomalies Low hair line (back)
  81. Structural anomalies of the digestive tract Microgastria
  82. Structural anomalies of the digestive tract Intestinal/gut/bowel malrotation
  83. Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  84. Functional anomalies of the digestive system Feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  85. Functional anomalies of the digestive system Halitosis/bad breath
  86. Functional anomalies of the digestive system Nausea/vomiting/regurgitation/merycism/hyperemesis
  87. Functional anomalies of the digestive system Gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  88. Functional anomalies of the digestive system Acute abdominal pain/colic
  89. Functional anomalies of the digestive system Acute diarrhea
  90. Functional anomalies of the digestive system Constipation
  91. Functional anomalies of the digestive system Constipation
  92. Functional anomalies of the digestive system Constipation
  93. Structural anomalies of the respiratory system and diaphragm Larynx/laryngeal stenosis/atresia
  94. Functional anomalies of the respiratory system and diaphragm Respiratory distress/dyspnea/respiratory failure/lung volume reduction
  95. Functional anomalies of the respiratory system and diaphragm Bronchiolitis
  96. Structural anomalies of the cardio-circulatory system Pulmonary valve atresia/stenosis/narrowing
  97. Structural anomalies of the cardio-circulatory system Atrial septal defect/interauricular communication
  98. Structural anomalies of the cardio-circulatory system Cardiomyopathy/hypertrophic/dilated
  99. Structural anomalies of the cardio-circulatory system Cardiomyopathy/hypertrophic/dilated
  100. Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
  101. Functional anomalies of the cardio-circulatory system Cardiac rhythm disorder/arrhythmia
  102. Functional anomalies of the cardio-circulatory system Heart/cardiac failure
  103. Functional anomalies of the cardio-circulatory system Hypotension
  104. Structural anomalies of the kidney and the urinary tract Agenesis/hypoplasia/aplasia of kidneys
  105. Structural anomalies of the kidney and the urinary tract Agenesis/hypoplasia/aplasia of kidneys
  106. Structural anomalies of the kidney and the urinary tract Vesicorenal/vesicoureteral reflux
  107. Functional anomalies of the kidney and the urinary tract Urinary/renal lithiasis/kidney stones/nephritic colic
  108. Structural anomalies of the genital system Abnormal/polycystic ovaries
  109. Structural anomalies of the genital system Abnormal/polycystic ovaries
  110. Structural anomalies of the genital system Undescended/ectopic testes/cryptorchidia/unfixed testes
  111. Anomalies of the endocrine glands Hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  112. Anomalies of the endocrine glands Hypothyroidy
  113. Structural anomalies of the nervous system Syringomelia
  114. Structural anomalies of the nervous system Cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  115. Structural anomalies of the nervous system Communicating hydrocephaly
  116. Structural anomalies of the nervous system Dandy-Walker anomaly
  117. Structural anomalies of the nervous system Cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  118. Structural anomalies of the nervous system Intracranial/cerebral calcifications
  119. Functional anomalies of the nervous system Retrobulbar optic neuritis
  120. Functional anomalies of the nervous system Incessant startle response to noise
  121. Functional anomalies of the nervous system Incessant startle response to noise
  122. Functional anomalies of the nervous system Facial pain/cephalalgia/migraine
  123. Functional anomalies of the nervous system Cranial hypertension
  124. Functional anomalies of the nervous system EEG anomalies
  125. Functional anomalies of the nervous system EEG anomalies
  126. Functional anomalies of the nervous system EEG anomalies
  127. Functional anomalies of the nervous system EEG anomalies
  128. Functional anomalies of the nervous system EEG anomalies
  129. Functional anomalies of the nervous system Sphincter dysfunction
  130. Functional anomalies of the nervous system Abnormal gait
  131. Functional anomalies of the nervous system Abnormal gait
  132. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  133. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  134. Functional anomalies of the nervous system Ataxia/incoordination/trouble of the equilibrium
  135. Functional anomalies of the nervous system Tremor
  136. Functional anomalies of the nervous system Tremor
  137. Functional anomalies of the nervous system Tremor
  138. Functional anomalies of the nervous system Tremor
  139. Functional anomalies of the nervous system Dystonia/torticollis/writer's cramp/blepharospasms
  140. Functional anomalies of the nervous system Myoclonus/fasciculations
  141. Functional anomalies of the nervous system Tics/stereotypias
  142. Functional anomalies of the nervous system Tics/stereotypias
  143. Functional anomalies of the nervous system Hypotonia
  144. Functional anomalies of the nervous system Hypotonia
  145. Functional anomalies of the nervous system Hypotonia
  146. Functional anomalies of the nervous system Hypotonia
  147. Functional anomalies of the nervous system Hypotonia
  148. Functional anomalies of the nervous system Hypotonia
  149. Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
  150. Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
  151. Functional anomalies of the nervous system Hypertonia/spasticity/rigidity/stiffness
  152. Functional anomalies of the nervous system Hypereflexia
  153. Functional anomalies of the nervous system Hemiplegia/diplegia/hemiparesia/limb palsy
  154. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  155. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  156. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  157. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  158. Functional anomalies of the nervous system Seizures/epilepsy/absences/spasms/status epilepticus
  159. Functional anomalies of the nervous system Somnolence/hypersomnia/parasomnia
  160. Functional anomalies of the nervous system Somnolence/hypersomnia/parasomnia
  161. Functional anomalies of the nervous system Insomnia
  162. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  163. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  164. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  165. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  166. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  167. Functional anomalies of the nervous system Speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  168. Functional anomalies of the nervous system Elocution disorders/dysarthria/dysphonia
  169. Functional anomalies of the nervous system Alexia/agraphia/writing/reading troubles
  170. Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
  171. Functional anomalies of the nervous system Intellectual deficit/mental/psychomotor retardation/learning disability
  172. Functional anomalies of the nervous system Psychic/psychomotor regression/dementia/intellectual decline
  173. Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
  174. Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
  175. Functional anomalies of the nervous system Troubles of memory/amnesia/hypermnesia
  176. Functional anomalies of the nervous system Hyperactivity/attention deficit
  177. Functional anomalies of the nervous system Hyperactivity/attention deficit
  178. Functional anomalies of the nervous system Hyperactivity/attention deficit
  179. Functional anomalies of the nervous system Visual/auditory/tactile agnosia/propopagnosia/simultagnosia
  180. Functional anomalies of the nervous system Autism/autistic disoders
  181. Functional anomalies of the nervous system Autism/autistic disoders
  182. Functional anomalies of the nervous system Autism/autistic disoders
  183. Functional anomalies of the nervous system Delirium/hallucination
  184. Functional anomalies of the nervous system Humour troubles/anxiety/depression/apathy/euphoria/irritability
  185. Functional anomalies of the nervous system Psychosis/schizophrenia/maniac disorder
  186. Functional anomalies of the nervous system Psychosis/schizophrenia/maniac disorder
  187. Functional anomalies of the nervous system Auto-aggressivity/auto-mutilation
  188. Muscle anomalies Myopathy
  189. Muscle anomalies Muscle weakness/flaccidity
  190. Muscle anomalies Muscle weakness/flaccidity
  191. Muscle anomalies Muscle weakness/flaccidity
  192. Muscle anomalies Muscle weakness/flaccidity
  193. Muscle anomalies Muscle weakness/flaccidity
  194. Muscle anomalies Myalgia/muscular pain
  195. Muscle anomalies Myalgia/muscular pain
  196. Anomalies of bones/skeletal anomalies Bone cyst
  197. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  198. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  199. Anomalies of cartilages, joints and periarticular tissue Articular/joint pain/arthralgia
  200. Anomalies of cartilages, joints and periarticular tissue Arthritis/synovitis/synovial proliferation
  201. Anomalies of cartilages, joints and periarticular tissue Musculo-tendinous retractions
  202. Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
  203. Anomalies of cartilages, joints and periarticular tissue Hyperextensible joints/articular hyperlaxity
  204. Anomalies of cartilages, joints and periarticular tissue Hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  205. Anomalies of the immunitary system Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency
  206. Anomalies of the immunitary system Agammaglobulinemia/hypogammaglobulinemia/B-cell deficiency
  207. Anomalies of the immunitary system Hypergammaglobulinemia
  208. Anomalies of the hematological system Thrombocytopenia/thrombopenia
  209. Metabolic anomalies Metabolic decompensation
  210. Metabolic anomalies Respiratory chain /mitochondrial anomalies
  211. Metabolic anomalies Vitamin B12 deficiency
  212. Metabolic anomalies Vitamin D deficiency
  213. Chromosomal or genetic anomaly Autosomal dominant inheritance
  214. Chromosomal or genetic anomaly Autosomal dominant inheritance
  215. Chromosomal or genetic anomaly Insterstitial/subtelomeric microdeletion/deletion
  216. Chromosomal or genetic anomaly Genomic imprinting anomaly
  217. Build/stature/longevity anomalies Generalized obesity
  218. Build/stature/longevity anomalies Short stature/dwarfism/nanism
  219. Build/stature/longevity anomalies Short stature/dwarfism/nanism
  220. Build/stature/longevity anomalies Asymmetry of the body/hemiatrophy/hemihyperthrophy
  221. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  222. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  223. Health status anomalies Weight loss/loss of appetite/break in weight curve/general health alteration
  224. Health status anomalies Fever/chilling
  225. Health status anomalies Asthenia/fatigue/weakness
  226. Health status anomalies Pallor
  227. Antenatal period/pregnancy anomalies Intrauterine growth retardation
  228. Antenatal period/pregnancy anomalies Maternal seizures