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endosteal sclerosis-cerebellar hypoplasia syndrome

Disease Summary
Associated Targets (1)
Tbio

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Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0008940:  endosteal sclerosis-cerebellar hypoplasia syndrome
GARD:0001195: 
MESH:C535353: 
Orphanet:85186: 
UMLS:C1859301: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found