|
MCHCCD
MCID: MCR311
MIFTS: 19
|
Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome (MCHCCD)
Categories:
Fetal diseases, Neuronal diseases, Rare diseases
|
|
|
|
Aliases & Classifications for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction...
MalaCards integrated aliases for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:
Characteristics:Orphanet epidemiological data:58
microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
one consanguineous egyptian family with 4 affected individuals has been reported (as of december 2011) HPO:31
microcephaly, cerebellar hypoplasia, and cardiac conduction defect syndrome:
Inheritance autosomal recessive inheritance Classifications:
Orphanet: 58
Rare neurological diseases
Developmental anomalies during embryogenesis |
|
OMIM :
56
The Zaki-Gleeson syndrome is an autosomal recessive neurodevelopmental disorder characterized by profound mental retardation, severe microcephaly, poor growth, cerebellar hypoplasia, and second-degree cardiac conduction defects (summary by Zaki et al., 2011). (614407)
MalaCards based summary : Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome, is also known as microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome, and has symptoms including action tremor and ataxia, truncal. Affiliated tissues include heart and skin, and related phenotypes are macrotia and failure to thrive |
|
|
Human phenotypes related to Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:31 (show all 28)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614407UMLS symptoms related to Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:action tremor, ataxia, truncal |
|
|
Genetic tests related to Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:
|
MalaCards organs/tissues related to Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:40
Heart,
Skin
|
Articles related to Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome:
|
|
|
|
Search
GEO
for disease gene expression data for Microcephaly, Cerebellar Hypoplasia, and Cardiac Conduction Defect Syndrome.
|
|
|
|