308205.1.2

Lebanon

Alopecia; Ichthyosis follicularis; Psoriasiform lesion; Ectrodactyly ; Neurodevelopmental delay ; Seizure; Osteoporosis; Renal insufficiency; ;

Male

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_015884.3:c.1424T>C	1		IFAP Syndrome with or without Bresheck Syndrome

Sibling of 308205.1.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
308205.1.1	Lebanon	Alopecia; Ichthyosis follicularis; Psoriasiform lesion; Neurodevelopmental delay; Seizure; Osteoporosis; Renal insufficiency;	Male	Yes		Sibling of 308205.1.2