paraplegia-intellectual disability-hyperkeratosis syndrome
A syndrome characterized by intellectual deficit, spasticity in the lower limbs (spastic paraplegia), pes cavus deformity of both feet, an abnormal gait, and palmar and plantar hyperkeratosis. It has been reported in four brothers. The mother of the affected boys had normal intelligence, plantar hyperkeratosis and a strong facial resemblance to her retarded sons. Her three daughters were normal. This syndrome most likely an X-linked recessive condition.
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
excluded_subClassOf
MONDO:0020119
X-linked syndromic intellectual disability
excluded_subClassOf
MONDO:0002254
syndromic disease
is_a
Fitzsimmons-McLachlan-Gilbert syndrome
exact
mental retardation with spastic paraplegia and palmoplantar hyperkeratosis
related