|
1
|
(HPO:0002571)
|
Achalasia |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
6
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
|
|
179 / 7739
|
|
7
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
8
|
(HPO:0011420)
|
Death |
Occasional [Orphanet]
|
|
|
|
184 / 7739
|
|
9
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
10
|
(HPO:0400004)
|
Long ear |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
11
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
12
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|