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:
expandMuscular Atrophy, Spinal (D009134)
..Starting node
..expandSpinal Muscular Atrophy with Mental Retardation (C564807)

       Child Nodes:



 Sister Nodes: 
..expandBulbo-Spinal Atrophy, X-Linked (D055534) Child1
..expandCamptocormia (C537968)
..expandDistal Hereditary Motor Neuropathy, Type II (C580044)
..expandNeuronopathy, Distal Hereditary Motor, Type I (C566675)
..expandNeuronopathy, Distal Hereditary Motor, Type IIB (C567084)
..expandNeuronopathy, Distal Hereditary Motor, Type V (C563443)
..expandNeuronopathy, Distal Hereditary Motor, Type Viib (C564362)
..expandNeuropathy, Distal Hereditary Motor, Type IIA (C563561)
..expandNeuropathy, Distal Hereditary Motor, Type VIIA (C563562)
..expandSCAPULOPERONEAL SPINAL MUSCULAR ATROPHY (OMIM:181405)
..expandScapuloperoneal Syndrome, Neurogenic, Kaeser Type (C566695)
..expandSpinal Muscular Atrophies of Childhood (D014897) Child7
..expandSpinal muscular atrophy 4 (C538417)
..expandSpinal Muscular Atrophy with Mental Retardation (C564807)
..expandSpinal muscular atrophy with respiratory distress 1 (C536880)
..expandSpinal Muscular Atrophy, Distal, Autosomal Recessive, 3 (C564626)
..expandSpinal Muscular Atrophy, Distal, Congenital Nonprogressive (C563981)
..expandSpinal Muscular Atrophy, Distal, X-Linked 3 (C564506)
..expandSpinal Muscular Atrophy, Facioscapulohumeral Type (C566674)
..expandSpinal muscular atrophy, Jerash type (C535715)
..expandSpinal Muscular Atrophy, Late-Onset, Finkel Type (C566673)
..expandSpinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant (C566672)
..expandSpinal muscular atrophy, Ryukyuan type (C536881)
..expandSpinal Muscular Atrophy, Segmental (C566670)
..expandSpinal Muscular Atrophy, Type IV (C563948)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:10485
Name:Spinal Muscular Atrophy with Mental Retardation
Definition:
Alternative IDs:
ParentIDs:MESH:D008607|MESH:D009134
TreeNumbers:C10.228.854.468/C564807 |C10.574.562.500/C564807 |C10.597.606.643/C564807 |C10.668.467.500/C564807 |C10.668.475/C564807 |C23.888.592.604.646/C564807 |F03.550.600/C564807
Synonyms:
Slim Mappings:Mental disorder|Nervous system disease|Signs and symptoms
Reference: MedGen: C564807
MeSH: C564807
OMIM: 271109;

Genes:
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0001249Intellectual disability
3 HP:0000252Microcephaly
4 HP:0007269Spinal muscular atrophy
5 HP:0001159Syndactyly
Disease Causing ClinVar Variants