Search Ontology:
Human Disease

hypotonia-cystinuria syndrome

Term ID
DOID:0060858
Synonyms
  • cystinuria with mitochondrial disease
Definition
A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (4)
References
Ontology
Human Disease   ( DOID:0060858 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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