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:
expandIntellectual Disability (D008607)
Parent Node:
expandMyotonia Congenita (D009224)
..Starting node
..expandMyotonia with Skeletal Abnormalities and Mental Retardation (C564967)

       Child Nodes:



 Sister Nodes: 
..expandBrody myopathy (C536607)
..expandMYOTONIA CONGENITA, AUTOSOMAL DOMINANT (OMIM:160800)
..expandMyotonia with Skeletal Abnormalities and Mental Retardation (C564967)
..expandNative American myopathy (C538343)
..expandPotassium aggravated myotonia (C538353)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7736
Name:Myotonia with Skeletal Abnormalities and Mental Retardation
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D009224
TreeNumbers:C05.651.662.500/C564967 |C10.574.500.545/C564967 |C10.597.606.643/C564967 |C10.668.491.606.500/C564967 |C16.320.400.540/C564967 |C23.888.592.604.646/C564967 |F03.550.600/C564967
Synonyms:
Slim Mappings:Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C564967
MeSH: C564967
OMIM: 255710;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001591Bell-shaped thorax
3 HP:0003725Firm muscles
4 HP:0002857Genu valgum
5 HP:0001256Intellectual disability, mild
6 HP:0006361Irregular femoral epiphysis
7 HP:0002751Kyphoscoliosis
8 HP:0002486Myotonia
9 HP:0000768Pectus carinatum
10 HP:0004322Short stature
11 HP:0003712Skeletal muscle hypertrophy
12 HP:0008422Vertebral wedging
Disease Causing ClinVar Variants