MOVED TO 614732

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 17
OrphanetNr:
OMIM Id: 300290
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002150) Hypercalciuria 45 / 7739
2
 (HPO:0000047) Hypospadias 250 / 7739
3
 (HPO:0000028) Cryptorchidism 347 / 7739
4
 (HPO:0000054) Micropenis 257 / 7739
5
 (HPO:0011220) Prominent forehead 137 / 7739
6
 (HPO:0003196) Short nose 264 / 7739
7
 (HPO:0005280) Depressed nasal bridge 381 / 7739
8
 (HPO:0000369) Low-set ears 372 / 7739
9
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
10
 (HPO:0000824) Growth hormone deficiency 56 / 7739
11
 (HPO:0000835) Adrenal hypoplasia 23 / 7739
12
 (HPO:0100255) Metaphyseal dysplasia 26 / 7739
13
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
14
 (HPO:0002656) Epiphyseal dysplasia 25 / 7739
15
 (HPO:0008897) Postnatal growth retardation 113 / 7739
16
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
17
 (HPO:0003072) Hypercalcemia 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: