The patient shows severementalretardation, congenital heart malformations, nephropathy, and other congenital anomalies.
2
These disorders range from mild Asperger's Syndrome to severementalretardation and social disability.
3
Mutant mice have impaired spatial memory, and σ1B-deficient humans have a severementalretardation.
4
The characteristic phenotype of AS is severementalretardation, ataxic gait, tremulousness, and jerky movements.
5
Lissencephaly is a human brain malformation manifested by a smooth cerebral surface and severementalretardation.
6
One patient is also physically disabled, exhibiting urogenital and limb malformations in addition to severementalretardation.
7
All patients with uncontrolled seizures had severementalretardation, and three of these had malformations of cortical development.
8
Angelman syndrome is a neurological disorder whose symptoms include severementalretardation, loss of motor coordination, and sleep disturbances.
9
All these patients had a strikingly similar poor neurological outcome characterized by dystonia, severementalretardation and acquired microcephaly.
10
A 22-year-old man with Down syndrome, who had been diagnosed as having severementalretardation, was put on donepezil therapy.
11
To our knowledge, the combination of this dystrophinopathy in association with severementalretardation has not been described in a girl.
12
Patients affected by MHBD deficiency usually manifest severementalretardation and convulsions, whereas beta-ketothiolase-deficient patients present encephalopathic crises characterized by metabolic acidosis, vomiting and coma.
13
Here we report a three-generation family in which two affected males showed severementalretardation and progressive spasticity, previously mapped in Xq27.2-qter.