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:
expandDandy-Walker Syndrome (D003616)
Parent Node:
expandMyopia (D009216)
..Starting node
..expandDandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy (C535985)

       Child Nodes:



 Sister Nodes: 
..expandAplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction (C563394)
..expandBlepharoptosis myopia ectopia lentis (C536236)
..expandBornholm Eye Disease (C564092)
..expandCohen syndrome (C536438)
..expandDandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy (C535985)
..expandDeafness, Cochlear, with Myopia and Intellectual Impairment (C565645)
..expandDonnai-Barrow syndrome (C536390)
..expandEpiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..expandEpiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness (C565046)
..expandGastrocutaneous syndrome (C535651)
..expandHypertelorism, Severe, With Midface Prominence, Myopia, Mental Retardation, And Bone Fragility (C566988)
..expandMASS syndrome (C536030)
..expandMicrophthalmia, Isolated, With Corectopia (C563581)
..expandMousa Al din Al Nassar syndrome (C536989)
..expandMyopia 1 (C564091)
..expandMyopia 10 (C563758)
..expandMyopia 11 (C566490)
..expandMyopia 12 (C566489)
..expandMyopia 13 (C564473)
..expandMyopia 14 (C565202)
..expandMyopia 15 (C567193)
..expandMyopia 16 (C567259)
..expandMyopia 18, Autosomal Recessive (C567606)
..expandMYOPIA 19, AUTOSOMAL DOMINANT (OMIM:613969)
..expandMyopia 2 (C563541)
..expandMYOPIA 20, AUTOSOMAL DOMINANT (OMIM:614166)
..expandMyopia 3 (C566397)
..expandMyopia 5 (C563922)
..expandMyopia 6 (C536105)
..expandMyopia 7 (C563761)
..expandMyopia 8 (C563760)
..expandMyopia 9 (C563759)
..expandMyopia, Degenerative (D047728)
..expandNight blindness skeletal anomalies unusual facies (C536121)
..expandNight blindness, congenital stationary (C536122) Child4
..expandNoble Bass Sherman syndrome (C536124)
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandPolydactyly myopia syndrome (C536331)
..expandSinus Node Disease and Myopia (C566690)
..expandSpondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness (C566659)
..expandStickler Syndrome, Autosomal Recessive, COL9A1-Related (C565177)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:2966
Name:Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
Definition:
Alternative IDs:
ParentIDs:MESH:D003616|MESH:D009216
TreeNumbers:C10.228.140.252.300/C535985 |C10.228.140.602.288/C535985 |C10.228.140.631.450.500/C535985 |C10.500.205/C535985 |C11.744.636/C535985 |C16.131.666.205/C535985
Synonyms:Facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation
Slim Mappings:Congenital abnormality|Eye disease|Nervous system disease
Reference: MedGen: C535985
MeSH: C535985
OMIM: 220219;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002335Agenesis of cerebellar vermis
3 HP:0001821Broad nail
4 HP:0006824Cranial nerve paralysis
5 HP:0001305Dandy-Walker malformation
6 HP:0002198Dilated fourth ventricle
7 HP:0000930Elevated imprint of the transverse sinuses
8 HP:0000238Hydrocephalus
9 HP:0006887Intellectual disability, progressive
10 HP:0010864Intellectual disability, severe
11 HP:0000256Macrocephaly
12 HP:0000639Nystagmus
13 HP:0002951Partial absence of cerebellar vermis
14 HP:0000933Posterior fossa cyst at the fourth ventricle
15 HP:0001799Short nail
16 HP:0006118Shortening of all distal phalanges of the fingers
17 HP:0000931Thinning and bulging of the posterior fossa bones
18 HP:0002078Truncal ataxia
Disease Causing ClinVar Variants