Koolen-De Vries syndrome

Orpha code: 96169OMIM code: 610443

Definition

A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.

Disease data
Classification

Malformation syndrome

Synonyms
KdVS
KdVS
ORPHA code
96169
OMIM code
610443
ICD10 code
Q87.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl