Version: 8.0.0
Date: Tue Jan 28 2025
3 results
Disease Disease Group: monogenic disease Genes: MECP2 (Hsa)

syndromic X-linked intellectual disability Lubs type

Disease
Source: DOID:0060799
Definition: A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28.
Genes: MECP2 (Hsa)

X-linked intellectual disability-psychosis-macroorchidism syndrome

Disease
Source: DOID:0060827
Definition: A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28.
Genes: MECP2 (Hsa)

severe congenital encephalopathy due to MECP2 mutation

Disease
Source: DOID:0111932
Definition: A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28.
Genes: MECP2 (Hsa)