OBO ID: DOID:0060858
Term Name: hypotonia-cystinuria syndrome Search Ontology:
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 hypotonia-cystinuria syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None