Self-healing collodion baby

General Information (adopted from Orphanet):

Synonyms, Signs: SHCB
Number of Symptoms 18
OrphanetNr: 281122
OMIM Id: 242100
242300
606545
ICD-10: Q80.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive congenital ichthyosis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0003241) External genital hypoplasia 25 / 7739
2
 (HPO:0000232) Everted lower lip vermilion rare [HPO:skoehler] 90 / 7739
3
 (HPO:0000656) Ectropion rare [HPO:skoehler] 25 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0003470) Paralysis 11 / 7739
6
 (HPO:0001831) Short toe rare [HPO:skoehler] 52 / 7739
7
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
8
 (HPO:0009381) Short finger rare [HPO:skoehler] 45 / 7739
9
 (HPO:0001510) Growth delay 295 / 7739
10
 (HPO:0001792) Small nail rare [HPO:skoehler] 55 / 7739
11
 (HPO:0007479) Congenital nonbullous ichthyosiform erythroderma 13 / 7739
12
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
13
 (HPO:0000966) Hypohidrosis hallmark [HPO:skoehler] 41 / 7739
14
 (HPO:0001595) Abnormality of the hair 89 / 7739
15
 (HPO:0000982) Palmoplantar keratoderma 40 / 7739
16
 (HPO:0007431) Congenital ichthyosiform erythroderma 17 / 7739
17
 (HPO:0001816) Thin nail rare [HPO:skoehler] 11 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: