215100.1

Country

Lebanon

HPO Terms

Micropenis; Hypogonadism; Microcephaly; Optic atrophy; Delayed speech and language development; Abnormality of the skeletal system; Spasticity; Abnormal facial shape; Generalized-onset seizure; Febrile seizure (within the age range of 3 months to 6 years); Intellectual disability

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_000288.4:c.875T>A	2		Rhizomelic Chondrodysplasia Punctata, Type 1

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References

Nair et al. 2018