|
|
(HPO:0000453) | Choanal atresia | Very frequent [Orphanet] | 76 / 7739 | |||
|
|
(HPO:0005990) | Thyroid hypoplasia | Very frequent [Orphanet] | 21 / 7739 | |||
|
|
(HPO:0008191) | Thyroid agenesis | 11 / 7739 | ||||
|
|
(HPO:0003777) | Pili torti | Very frequent [Orphanet] | 24 / 7739 | |||
|
|
(HPO:0001006) | Hypotrichosis | Very frequent [Orphanet] | 219 / 7739 | |||
|
|
(HPO:0000202) | Oral cleft | Very frequent [Orphanet] | 120 / 7739 | |||
|
|
(HPO:0001561) | Polyhydramnios | Very frequent [Orphanet] | 191 / 7739 | |||
|
|
(HPO:0000821) | Hypothyroidism | Very frequent [Orphanet] | 141 / 7739 | |||
|
|
(HPO:0000175) | Cleft palate | 349 / 7739 | ||||
|
|
(HPO:0010564) | Bifid epiglottis | 2 / 7739 | ||||
|
|
(OMIM) | Spiky hair | 1 / 7739 | ||||
|
|
(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
|
|
(HPO:0000277) | Abnormality of the mandible | Very frequent [Orphanet] | 394 / 7739 | |||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |