Ichthyosis - hepatosplenomegaly - cerebellar degeneration

General Information (adopted from Orphanet):

Synonyms, Signs: Dykes-Markes-Harper syndrome
Number of Symptoms 13
OrphanetNr: 2274
OMIM Id: 242520
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed: 403779009

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
X-linked recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with other associated signs
 -Rare genetic disease
 -Rare skin disease
Rare hereditary ataxia
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
2
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
3
 (HPO:0001251) Ataxia 413 / 7739
4
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
5
 (HPO:0001315) Reduced tendon reflexes Very frequent [Orphanet] 160 / 7739
6
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
7
 (HPO:0001260) Dysarthria 329 / 7739
8
 (HPO:0001744) Splenomegaly Very frequent [Orphanet] 337 / 7739
9
 (HPO:0002240) Hepatomegaly Very frequent [Orphanet] 467 / 7739
10
 (HPO:0001433) Hepatosplenomegaly 78 / 7739
11
 (HPO:0008064) Ichthyosis Very frequent [Orphanet] 108 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Normal steroid sulfatase 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: