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MCID: CRB062
MIFTS: 21
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Cerebellar Hypoplasia with Endosteal Sclerosis
Categories:
Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Cerebellar Hypoplasia with Endosteal Sclerosis:
Characteristics:Orphanet epidemiological data:58
endosteal sclerosis-cerebellar hypoplasia syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Anatomical: Neuronal diseases Bone diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis |
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GARD :
20
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 85186 Definition Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.
MalaCards based summary : Cerebellar Hypoplasia with Endosteal Sclerosis, also known as endosteal sclerosis-cerebellar hypoplasia syndrome, is related to alacrima, achalasia, and mental retardation syndrome and cerebellar hypoplasia. An important gene associated with Cerebellar Hypoplasia with Endosteal Sclerosis is POLR3B (RNA Polymerase III Subunit B). Affiliated tissues include bone, and related phenotypes are nystagmus and ataxia
More information from OMIM:
213002
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Diseases related to Cerebellar Hypoplasia with Endosteal Sclerosis via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Cerebellar Hypoplasia with Endosteal Sclerosis:31 (show all 9)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:213002 (Updated 05-Apr-2021) |
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MalaCards organs/tissues related to Cerebellar Hypoplasia with Endosteal Sclerosis:40
Bone
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Articles related to Cerebellar Hypoplasia with Endosteal Sclerosis:
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Genes related to Cerebellar Hypoplasia with Endosteal Sclerosis (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Cerebellar Hypoplasia with Endosteal Sclerosis:6
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Search
GEO
for disease gene expression data for Cerebellar Hypoplasia with Endosteal Sclerosis.
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