developmental delay, dysmorphic facies, and brain anomalies
developmental delay, hypotonia, and impaired language
GAND syndrome
Helsmoortel-Van Der Aa syndrome
intellectual developmental disorder with autistic features and language delay, with or without seizures
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies
Koolen de Vries syndrome
Luo-Schoch-Yamamoto syndrome
A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. (DO)
NESCAV syndrome
neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities
neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
neurodevelopmental disorder with dysmorphic facies and thin corpus callosum
neurodevelopmental disorder with eye movement abnormalities and ataxia
neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
neurodevelopmental disorder with speech impairment and dysmorphic facies