2p21 microdeletion syndrome without cystinuria
Findings
No curated finding names 2p21 microdeletion syndrome without cystinuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.
Definition from the Mondo Disease Ontology (MONDO:0018245), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
1 name
Resolves to: 2p21 microdeletion syndrome without cystinuria
- Also called
- Del(2)(p21) without cystinuria