614613.1

Country

Lebanon

HPO Terms

Intellectual disability; Neurodevelopmental delay; Seizure; Macrocephaly; Abnormal facial shape; Abnormality of the skeletal system; Growth delay; Short stature

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Sex

Unknown

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001104631.2:c.73A>G	1		Acrodysostosis 2 With or without Hormone Resistance

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Remarks

Parents are from the same village

References

Jalkh et al. 2019