DYSMYELINATION WITH JAUNDICE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 13
OrphanetNr:
OMIM Id: 224250
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000126) Hydronephrosis 119 / 7739
2
(HPO:0008736) Hypoplasia of penis 7 / 7739
3
(HPO:0000028) Cryptorchidism 347 / 7739
4
(HPO:0000072) Hydroureter 146 / 7739
5
(HPO:0001250) Seizures 1245 / 7739
6
(HPO:0001249) Intellectual disability 1089 / 7739
7
(HPO:0100021) Cerebral palsy 36 / 7739
8
(HPO:0002719) Recurrent infections 107 / 7739
9
(OMIM) Hepatic duct hypoplasia 1 / 7739
10
(OMIM) Dysmyelination of the brain and spinal cord 1 / 7739
11
(OMIM) Jaundice, progressive or intermittent 1 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) Cerebral palsy, spastic 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Neuhauser et al. (1977) described a brother and sister, with nonconsanguineous parents, who had severe mental retardation, spastic cerebral palsy, seizures, progressive or intermittent jaundice, and recurrent infections. They died at ages 3 and 4 years. One showed ...