|
1
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0000924)
|
Abnormality of the skeletal system |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
3
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
5
|
(HPO:0009064)
|
Generalized lipodystrophy |
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
|
|
30 / 7739
|
|
8
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
10
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
11
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0000940)
|
Abnormal diaphysis morphology |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
14
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
15
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
16
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
|
17
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
18
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
19
|
(HPO:0001547)
|
Abnormality of the rib cage |
|
|
|
|
25 / 7739
|
|
20
|
(HPO:0002215)
|
Sparse axillary hair |
|
|
|
|
21 / 7739
|
|
21
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
22
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
23
|
(HPO:0002967)
|
Cubitus valgus |
|
|
|
|
49 / 7739
|
|
24
|
(HPO:0004993)
|
Slender long bones with narrow diaphyses |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0005328)
|
Progeroid facial appearance |
|
|
|
|
13 / 7739
|
|
26
|
(HPO:0006153)
|
Disharmonious carpal bone |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0007464)
|
Sparse facial hair |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0009059)
|
Congenital generalized lipodystrophy |
|
|
|
|
2 / 7739
|
|
29
|
(HPO:0100818)
|
Long thorax |
|
|
|
|
10 / 7739
|
|
30
|
(HPO:0100864)
|
Short femoral neck |
|
|
|
|
36 / 7739
|
|
31
|
(OMIM)
|
Thin body habitus |
|
|
|
|
5 / 7739
|
|
32
|
(OMIM)
|
Progressive osteopenia |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Thin limbs with prominent joints |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Genua valgum |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Dense longitudinal metaphyseal striations (distal femur, radius, and ulna) |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Sparse axillary and facial hair |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
38
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|