Definition
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.
Definition
A rare, genetic, multiple congenital anomalies syndrome defined by global developmental delay and severe intellectual disability, epilepsy, hypoplasia/aplasia of the nails of the thumb and great toe, and facial dysmorphism.
Disease data
Classification
Disease
Synonyms
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS
Zespół ciężkiej niepełnosprawności intelektualnej i aplazji/hipoplazji kciuka i palucha
TMBTS
ORPHA code
420561
OMIM code
611816
ICD10 code
Q87.2
ICD11 code
-
No additional description.
Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl