600105.2.1

Country

Saudi Arabia

HPO Terms

Rod-cone dystrophy ; Nyctalopia ; Microcephaly ; Motor delay ; Delayed speech and language development ; Intellectual disability ; Specific learning disability ; Autistic behavior ; Ataxia

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Sex

Female

Family History

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001290553.1:c.346C>A	2
NM_201253.2:c.2234C>T	2		Retinitis Pigmentosa 12

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Remarks

Patient was found to have a dual diagnosis of Retinitis Pigmentosa (caused by a CRB1 gene mutation) and Intellectual Disability (caused by an ADIPOR1 gene mutation).

References

Monies et al. 2017