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|
(HPO:0011331) | Hemifacial atrophy | Frequent [Orphanet] | 79 / 7739 | |||
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(HPO:0000482) | Microcornea | Frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0000486) | Strabismus | Very frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0004326) | Cachexia | Frequent [Orphanet] | 71 / 7739 | |||
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(HPO:0001762) | Talipes equinovarus | Frequent [Orphanet] | 309 / 7739 | |||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0007477) | Abnormal dermatoglyphics | Very frequent [Orphanet] | 72 / 7739 | |||
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(HPO:0000252) | Microcephaly | 832 / 7739 | ||||
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(HPO:0000577) | Exotropia | 43 / 7739 | ||||
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(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
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(HPO:0002803) | Congenital contracture | 45 / 7739 | ||||
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(HPO:0003693) | Distal amyotrophy | 118 / 7739 | ||||
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(OMIM) | Low digital arches | 1 / 7739 | ||||
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(HPO:0008373) | Puberty and gonadal disorders | Frequent [Orphanet] | 156 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0001417) | X-linked inheritance | 173 / 7739 |