DISEASE: Neurodevelopmental disorder with poor language and loss of hand skills
Entry
H02891 Disease
Name
Neurodevelopmental disorder with poor language and loss of hand skills
Description
Neurodevelopmental disorder with poor language and loss of hand skills (NDPLHS) is an autosomal dominant disorder characterized by a cascade of intellectual, motor, and social disabilities, presenting with head growth arrest, stereotyped hand movements, loss of language skills, and epilepsy. Mutations in the GABBR2 gene lead to this disease. GABBR2-mediated gamma-aminobutyric acid signaling has been reported to be a critical factor in determining the severity and nature of neurodevelopmental phenotypes.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02891 Neurodevelopmental disorder with poor language and loss of hand skills
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06544 Neuroactive ligand signaling
H02891 Neurodevelopmental disorder with poor language and loss of hand skills
Yoo Y, Jung J, Lee YN, Lee Y, Cho H, Na E, Hong J, Kim E, Lee JS, Lee JS, Hong C, Park SY, Wie J, Miller K, Shur N, Clow C, Ebel RS, DeBrosse SD, Henderson LB, Willaert R, Castaldi C, Tikhonova I, Bilguvar K, Mane S, Kim KJ, Hwang YS, Lee SG, So I, Lim BC, Choi HJ, Seong JY, Shin YB, Jung H, Chae JH, Choi M
Title
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
