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:
expandDwarfism (D004392)
Parent Node:
expandIntellectual Disability (D008607)
Parent Node:
expandMegalencephaly (D058627)
..Starting node
..expandMental retardation, macrocephaly, short stature and craniofacial dysmorphism (C537453)

       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:6997
Name:Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
Definition:
Alternative IDs:
ParentIDs:MESH:D004392|MESH:D008607|MESH:D058627
TreeNumbers:C05.116.099.343/C537453 |C05.660.207.536/C537453 |C10.500.507.400.249/C537453 |C10.597.606.643/C537453 |C16.131.621.207.532/C537453 |C16.131.666.507.400.249/C537453 |C16.320.240/C537453 |C19.297/C537453 |C23.888.592.604.646/C537453 |F03.550.600/C537453
Synonyms:Fryns Dereymaeker Haegeman syndrome
Slim Mappings:Congenital abnormality|Endocrine system disease|Genetic disease (inborn)|Mental disorder|Musculoskeletal disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C537453
MeSH: C537453
OMIM:

Genes:
Phenotypes
Disease Causing ClinVar Variants