Phenotype #0000300223

Individual ID	00408095
Associated disease	-
Phenotype details	11 year old female was born at term after an uncomplicated perinatal course with a normal birth weight. During early infancy she was noticed to have hypotonia, weakness, and developmental delay. During early childhood, she continued to have hypotonia and weakness and she developed ataxia evident by slurred speech and ataxic gait. She achieved independent walking at 5 years of age, but as her neurological manifestations progressed, she became wheelchair bound before the age of 10 years. She also had talipes equinovarus and pes cavus which required surgical correction at the age of 5 years, kyphoscoliosis needed surgical procedure at the age of 10 years, and neuropathy evident by nerve conduction studies showing polyneuropathy predominantly demyelinating. Her physical examination was significant for wasted muscles particularly small hand muscles, weakness, hypotonia, hyporeflexia, decreased sensation, head tremor, dysmetria, intension tremor, and distinctive facial features (prominent eyes and upslanting palpebral fissures). ECG, echocardiogram, brain MRI, spinal MRI, and eye exam were all normal. Her parents were cousins and she had an old sister who is similarly affected and three healthy brothers.
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Agenesis of the corpus callosum with peripheral neuropathy
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-13 19:19:00 +02:00 (CEST)
Date last edited	N/A