neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
neurodevelopmental disorder with language delay and seizures
Neurodevelopmental Disorder with Microcephaly and Gray Sclerae
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities
neurodevelopmental disorder with poor growth and behavioral abnormalities
neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss
neurodevelopmental disorder with spasticity and poor growth
Rafiq syndrome
An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. (DO)
Sotos syndrome 3
spastic tetraplegia, thin corpus callosum, and progressive microcephaly