MCID: DYS195
MIFTS: 12

Dysmyelination with Jaundice

Aliases & Classifications for Dysmyelination with Jaundice

MalaCards integrated aliases for Dysmyelination with Jaundice:

Name: Dysmyelination with Jaundice 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on one report of brother and sister


HPO:

32
dysmyelination with jaundice:
Inheritance autosomal recessive inheritance


Summaries for Dysmyelination with Jaundice

MalaCards based summary : Dysmyelination with Jaundice Affiliated tissues include brain and spinal cord, and related phenotypes are intellectual disability and seizures

Description from OMIM: 224250

Related Diseases for Dysmyelination with Jaundice

Symptoms & Phenotypes for Dysmyelination with Jaundice

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
mental retardation
cerebral palsy, spastic
dysmyelination of the brain and spinal cord

Respiratory:
recurrent infections

Genitourinary Kidneys:
hydronephrosis

Abdomen Liver:
jaundice, progressive or intermittent
hepatic duct hypoplasia

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
hypoplasia of penis

Genitourinary Ureters:
hydroureter


Clinical features from OMIM:

224250

Human phenotypes related to Dysmyelination with Jaundice:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 cryptorchidism 32 HP:0000028
4 jaundice 32 HP:0000952
5 recurrent infections 32 HP:0002719
6 hypoplasia of penis 32 HP:0008736
7 cerebral palsy 32 HP:0100021
8 hydronephrosis 32 HP:0000126
9 hydroureter 32 HP:0000072

Drugs & Therapeutics for Dysmyelination with Jaundice

Search Clinical Trials , NIH Clinical Center for Dysmyelination with Jaundice

Genetic Tests for Dysmyelination with Jaundice

Anatomical Context for Dysmyelination with Jaundice

MalaCards organs/tissues related to Dysmyelination with Jaundice:

41
Brain, Spinal Cord

Publications for Dysmyelination with Jaundice

Variations for Dysmyelination with Jaundice

Expression for Dysmyelination with Jaundice

Search GEO for disease gene expression data for Dysmyelination with Jaundice.

Pathways for Dysmyelination with Jaundice

GO Terms for Dysmyelination with Jaundice

Sources for Dysmyelination with Jaundice

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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