256520.2

Country

United Arab Emirates

HPO Terms

Severe intrauterine growth retardation; Ichthyosis; Microcephaly; Anemia; Micrognathia; Depressed nasal bridge; Hypertelorism; Hypertonia; Hyposerinemia; Hypoglycinemia; Decreased CSF serine concentration; Abnormal CSF glycine concentration
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006623.3:c.1286G>T2
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