Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitalia.
The proband, the first child of unrelated parents, was noted in infancy to have microcephaly, developmental delay, dysmorphic facies, hypotonia, a small penis with cryptorchidism, and a fixed flexion deformity of his left index finger. His maternal uncle is severely retarded and has similar dysmorphic facies.
Porteous
M E
ME
Division of Human Genetics, University of Newcastle upon Tyne.
Burn
J
J
D002675:Child, Preschool; D005149:Facial Expression; D008040:Genetic Linkage; D005837:Genitalia, Male / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability; D008297:Male; D008831:Microcephaly / Q000150:complications / Q000235:genetics*; D009123:Muscle Hypotonia / Q000150:complications / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome