Congenital ichthyosis - microcephalus - tetraplegia

General Information (adopted from Orphanet):

Synonyms, Signs: Congenital ichthyosis - microcephalus - quadriplegia
Number of Symptoms 8
OrphanetNr: 2271
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Unknown
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with prominent neurologics signs
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000271) Abnormality of the face Very frequent [Orphanet] 108 / 7739
3
 (HPO:0004374) Hemiplegia/hemiparesis Very frequent [Orphanet] 158 / 7739
4
 (HPO:0000763) Sensory neuropathy Very frequent [Orphanet] 78 / 7739
5
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
6
 (HPO:0000958) Dry skin Very frequent [Orphanet] 152 / 7739
7
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
8
 (HPO:0003011) Abnormality of the musculature Very frequent [Orphanet] 47 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: