|
|
(HPO:0000691) | Microdontia | Very frequent [Orphanet] | 104 / 7739 | |||
|
|
(HPO:0002705) | High, narrow palate | Very frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0002162) | Low posterior hairline | Very frequent [Orphanet] | 88 / 7739 | |||
|
|
(HPO:0004554) | Generalized hypertrichosis | 30 / 7739 | ||||
|
|
(HPO:0005280) | Depressed nasal bridge | Very frequent [Orphanet] | 381 / 7739 | |||
|
|
(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
|
|
(HPO:0000767) | Pectus excavatum | Very frequent [Orphanet] | 244 / 7739 | |||
|
|
(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
|
|
(HPO:0007971) | Lamellar cataract | 6 / 7739 | ||||
|
|
(OMIM) | Generalized hypertrichosis, back, shoulders, and face | 1 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0011362) | Abnormal hair quantity | Very frequent [Orphanet] | 92 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |