Global Variome shared LOVD

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Phenotype #0000300212 Individual ID 00408084 Associated disease - Phenotype details 11 years old boy with developmental delay and intellectual disability. He had recurrent complex febrile seizure that resolved, hypotonia, nystagmus, underweight, short stature, and microcephaly. His brain MRI was normal. His parents were cousins and he had 7 brothers and 2 sisters all of whom were healthy. Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy Age/Examination 11y (11 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-13 19:19:00 +02:00 (CEST) Date last edited N/A

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