SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 22
OrphanetNr:
OMIM Id: 615789
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:0002007) Frontal bossing 366 / 7739
2
 (HPO:0000520) Proptosis 192 / 7739
3
 (HPO:0005280) Depressed nasal bridge 381 / 7739
4
 (HPO:0000463) Anteverted nares 305 / 7739
5
 (HPO:0000252) Microcephaly 2/2 [HPO:probinson] 832 / 7739
6
 (HPO:0000348) High forehead 157 / 7739
7
 (HPO:0000506) Telecanthus 156 / 7739
8
 (HPO:0000535) Sparse and thin eyebrow 76 / 7739
9
 (HPO:0001883) Talipes 12 / 7739
10
 (HPO:0011927) Short digit 17 / 7739
11
 (HPO:0009882) Short distal phalanx of finger 125 / 7739
12
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
13
 (HPO:0000938) Osteopenia 2/2 [HPO:probinson] 138 / 7739
14
 (HPO:0001762) Talipes equinovarus 309 / 7739
15
 (HPO:0001518) Small for gestational age 2/2 [HPO:probinson] 107 / 7739
16
 (HPO:0003510) Severe short stature 2/2 [HPO:probinson] 90 / 7739
17
 (HPO:0005590) Spotty hypopigmentation 10 / 7739
18
 (HPO:0004823) Anisopoikilocytosis 4 / 7739
19
 (HPO:0001903) Anemia 289 / 7739
20
 (HPO:0002719) Recurrent infections 107 / 7739
21
 (HPO:0012736) Profound global developmental delay 3 / 7739
22
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: