268300.2

Saudi Arabia

Microcephaly; Postnatal growth retardation; Joint contracture; Hypertelorism; Low-set ears; High forehead; Thin vermilion border; Sparse hair

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001017420.3:c.1132-7A>G	2		Roberts-SC Phocomelia Syndrome