Aplasia cutis - myopia

General Information (adopted from Orphanet):

Synonyms, Signs: Gershoni-Baruch-Leibo syndrome
Number of Symptoms 15
OrphanetNr: 1117
OMIM Id: 601075
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 4 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic mixed dermis disorder
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Mixed dermis disorder
 -Rare skin disease
Syndromic myopia
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001362) Calvarial skull defect Very frequent [Orphanet] 22 / 7739
2
 (HPO:0011003) Severe Myopia 31 / 7739
3
 (HPO:0000639) Nystagmus Very frequent [Orphanet] 555 / 7739
4
 (HPO:0000510) Rod-cone dystrophy Very frequent [Orphanet] 266 / 7739
5
 (HPO:0006934) Congenital nystagmus 10 / 7739
6
 (HPO:0000545) Myopia Very frequent [Orphanet] 286 / 7739
7
 (HPO:0012639) Abnormality of nervous system morphology Occasional [Orphanet] 25 / 7739
8
 (HPO:0001287) Meningitis Occasional [Orphanet] 46 / 7739
9
 (HPO:0000924) Abnormality of the skeletal system Occasional [Orphanet] 114 / 7739
10
 (HPO:0008065) Aplasia/Hypoplasia of the skin Very frequent [Orphanet] 81 / 7739
11
 (HPO:0007536) Aplasia cutis congenita of midline scalp vertex 1 / 7739
12
 (HPO:0200042) Skin ulcer Occasional [Orphanet] 138 / 7739
13
 (HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
14
 (OMIM) Cone-rod dysfunction 1 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: