Crandall syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Alopecia - deafness - hypogonadism
Number of Symptoms 12
OrphanetNr: 202
OMIM Id:
ICD-10:
UMLs: C0432348
MeSH:
MedDRA:
Snomed: 278098005

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Syndromic hair shaft abnormality
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis Frequent [Orphanet] 257 / 7739
2
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
3
 (HPO:0000606) Abnormality of the periorbital region Frequent [Orphanet] 96 / 7739
4
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Very frequent [Orphanet] 117 / 7739
5
 (HPO:0000407) Sensorineural hearing impairment Very frequent [Orphanet] 524 / 7739
6
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
7
 (HPO:0003777) Pili torti Very frequent [Orphanet] 24 / 7739
8
 (HPO:0002213) Fine hair Frequent [Orphanet] 77 / 7739
9
 (HPO:0002299) Brittle hair Frequent [Orphanet] 52 / 7739
10
 (HPO:0002225) Sparse pubic hair Very frequent [Orphanet] 76 / 7739
11
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
12
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: