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|
(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
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(HPO:0000293) | Full cheeks | Very frequent [Orphanet] | 85 / 7739 | |||
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(HPO:0000343) | Long philtrum | Very frequent [Orphanet] | 262 / 7739 | |||
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(HPO:0000490) | Deeply set eye | Very frequent [Orphanet] | 131 / 7739 | |||
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(HPO:0000545) | Myopia | Very frequent [Orphanet] | 286 / 7739 | |||
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(HPO:0001083) | Ectopia lentis | Very frequent [Orphanet] | 45 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Very frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0002017) | Nausea and vomiting | Very frequent [Orphanet] | 134 / 7739 | |||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
|
|
(HPO:0002793) | Abnormal pattern of respiration | Very frequent [Orphanet] | 26 / 7739 | |||
|
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(HPO:0003196) | Short nose | Very frequent [Orphanet] | 264 / 7739 | |||
|
|
(HPO:0004374) | Hemiplegia/hemiparesis | Very frequent [Orphanet] | 158 / 7739 | |||
|
|
(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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|
(HPO:0004337) | Abnormality of amino acid metabolism | Very frequent [Orphanet] | 45 / 7739 | |||
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|
(HPO:0002015) | Dysphagia | Very frequent [Orphanet] | 301 / 7739 | |||
|
|
(HPO:0100543) | Cognitive impairment | Very frequent [Orphanet] | 230 / 7739 | |||
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|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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|
(HPO:0001522) | Death in infancy | Very frequent [Orphanet] | 275 / 7739 | |||
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|
(HPO:0012471) | Thick vermilion border | Very frequent [Orphanet] | 115 / 7739 |