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:
expandCraniofacial Abnormalities (D019465)
Parent Node:
expandMalformations of Cortical Development, Group I (D065703)
..Starting node
..expandMegalencephaly (D058627)

       Child 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)



 Sister Nodes: 
..expandCerebellar Granule Cell Hypertrophy and Megalencephaly (C563565)
..expandFocal cortical dysplasia of Taylor (C537067)
..expandMegalencephaly (D058627) Child23
..expandMicrocephaly (D008831) Child140
..expandTuberous Sclerosis (D014402) Child4
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:6893
Name:Megalencephaly
Definition:A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).
Alternative IDs:
ParentIDs:MESH:D019465|MESH:D065703
TreeNumbers:C05.660.207.536 |C10.500.507.400.249 |C16.131.621.207.532 |C16.131.666.507.400.249
Synonyms:Macrocephalies |Macrocephaly |Megacephalies |Megacephaly |Megalencephalies |Megalocephalies |Megalocephaly
Slim Mappings:Congenital abnormality|Musculoskeletal disease|Nervous system disease
Reference: MedGen: D058627
MeSH: D058627
OMIM: 155350;

Genes:
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001249Intellectual disability
3 HP:0001355Megalencephaly
Disease Causing ClinVar Variants