Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandHereditary Central Nervous System Demyelinating Diseases (D020279)
Parent Node:
expandMegalencephaly (D058627)
..Starting node
..expandMegalencephaly with Dysmyelination (C565408)

       Child Nodes:



 Sister Nodes: 
..expandBagatelle Cassidy syndrome (C537796)
..expandChromosome 1q21.1 Deletion Syndrome, 1.35-Mb (C567291)
..expandEhlers-Danlos Syndrome VI Phenotype with Macrocephaly (C565563)
..expandFacial Abnormalities, Kyphoscoliosis, and Mental Retardation (C565580)
..expandFryns Macrocephaly (C563963)
..expandHemimegalencephaly (D065705) Child1
..expandKniest like dysplasia lethal (C537208)
..expandMacrocephaly Autism Syndrome (C565342)
..expandMacrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies (C564621)
..expandMacrocephaly, Alopecia, Cutis Laxa, and Scoliosis (C567770)
..expandMacrocephaly, benign familial (C537717)
..expandMacrosomia obesity macrocephaly ocular abnormalities (C535812)
..expandMegalencephaly cutis marmorata telangiectatica congenita (C536142)
..expandMegalencephaly with Dysmyelination (C565408)
..expandMental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)
..expandMental Retardation, X-Linked 93 (C567066)
..expandMental Retardation, X-Linked, Syndromic, Turner Type (C567476)
..expandNeuhauser syndrome (C536143)
..expandPectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails (C563941)
..expandPolyhydramnios, Megalencephaly, And Symptomatic Epilepsy (C567020)
..expandVater Association With Hydrocephalus (C564752)
..expandZori Stalker Williams syndrome (C536728)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6895
Name:Megalencephaly with Dysmyelination
Definition:
Alternative IDs:
ParentIDs:MESH:D020279|MESH:D058627
TreeNumbers:C05.660.207.536/C565408 |C10.228.140.163.100.362/C565408 |C10.228.140.695.625/C565408 |C10.314.400/C565408 |C10.500.507.400.249/C565408 |C10.574.500.494/C565408 |C16.131.621.207.532/C565408 |C16.131.666.507.400.249/C565408 |C16.320.400.367/C565408 |C16.320.565.18
Synonyms:Megalencephaly with Diffuse White Matter Hypodensity
Slim Mappings:Congenital abnormality|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: C565408
MeSH: C565408
OMIM: 249240;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002500Abnormal cerebral white matter morphology
3 HP:0001251Ataxia
4 HP:0007266Cerebral dysmyelination
5 HP:0010852EEG with photoparoxysmal response
6 HP:0001355Megalencephaly
7 HP:0001250Seizure
8 HP:0001257Spasticity
Disease Causing ClinVar Variants