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615419.12
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Subject Details
Country
Egypt
HPO Terms
Psychomotor retardation; Severe; Intellectual disability; Autistic behavior; Hypotonia; Irritability; Cerebral cortical atrophy; Hypoplasia of the corpus callosum
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Sex
Female
Family History
No
Parental Consanguinity
Yes
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_001350748.2:c.537del
2
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
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References
Bramswig et al. 2018
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