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