Keratosis follicularis - dwarfism - cerebral atrophy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 18
OrphanetNr: 2339
OMIM Id: 308830
ICD-10: Q87.1
UMLs: C1839910
MeSH: C536158
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases [Orphanet]
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Other epidermis disorder
 -Rare skin disease
Other genetic epidermal disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002223) Absent eyebrow 21 / 7739
2
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Frequent [Orphanet] 117 / 7739
3
 (HPO:0200102) Sparse or absent eyelashes Frequent [Orphanet] 64 / 7739
4
 (HPO:0000561) Absent eyelashes 18 / 7739
5
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
6
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
7
 (HPO:0003510) Severe short stature 90 / 7739
8
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
9
 (HPO:0000962) Hyperkeratosis Very frequent [Orphanet] 216 / 7739
10
 (HPO:0007439) Generalized keratosis follicularis 4 / 7739
11
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
12
 (HPO:0002059) Cerebral atrophy 171 / 7739
13
 (HPO:0003819) Death in childhood 42 / 7739
14
 (HPO:0001417) X-linked inheritance 173 / 7739
15
 (OMIM) Absent hair, eyebrows and eyelashes 1 / 7739
16
 (OMIM) Severe congenital proportionate dwarfism 1 / 7739
17
 (OMIM) Early death 13 / 7739
18
 (HPO:0002120) Cerebral cortical atrophy Very frequent [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: