Hidrotic ectodermal dysplasia, Halal type

General Information (adopted from Orphanet):

Synonyms, Signs: Halal-Setton-Wang syndrome
Number of Symptoms 17
OrphanetNr: 1809
OMIM Id:
ICD-10: Q82.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Ectodermal dysplasia syndrome
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000858) Menstrual irregularities Frequent [Orphanet] 42 / 7739
2
 (HPO:0000080) Abnormality of reproductive system physiology Very frequent [Orphanet] 6 / 7739
3
 (HPO:0200102) Sparse or absent eyelashes Very frequent [Orphanet] 64 / 7739
4
 (HPO:0000606) Abnormality of the periorbital region Very frequent [Orphanet] 96 / 7739
5
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
6
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
7
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
8
 (HPO:0000598) Abnormality of the ear Occasional [Orphanet] 98 / 7739
9
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
10
 (HPO:0002558) Supernumerary nipple Frequent [Orphanet] 40 / 7739
11
 (HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
12
 (HPO:0007477) Abnormal dermatoglyphics Very frequent [Orphanet] 72 / 7739
13
 (HPO:0001805) Thick nail Very frequent [Orphanet] 96 / 7739
14
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
15
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
16
 (HPO:0000962) Hyperkeratosis Frequent [Orphanet] 216 / 7739
17
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: