219150.1.1

Country

Lebanon

HPO Terms

Generalized hypotonia ; Redundant skin ; Cataract ; Hyperreflexia ; Decreased muscle mass ; Congenital aphakia ; Hypoplasia of the corpus callosum ; Widened subarachnoid space ; Bilateral coxa valga ; Absent speech ; Severe global developmental delay ; Flexion contracture ; Sloping forehead ; Flat occiput ; Deeply set eye

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Sex

Male

Family History

Yes

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002860.4:c.2246G>A	1		Cutis Laxa, Autosomal Recessive, Type IIIA
NM_002860.4:c.2294G>A	1		Cutis Laxa, Autosomal Recessive, Type IIIA

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Remarks

Proband

References

Handley et al, 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
219150.1.2	Lebanon	Generalized hypotonia ; Hyperreflexia ; Decreased muscle mass ; Congenital aphakia ; Hypoplasia of the corpus callosum ; Widened subarachnoid space ; Bilateral coxa valga ; Absent speech ; Severe global developmental delay ; Flexion contracture ; Sloping forehead ; Flat occiput ; Deeply set eye	Male	Yes	No	Brother of 219150.1.1
219150.1.3	Lebanon		Male	Yes	No	Unaffected father of 219150.1.1
219150.1.4	Lebanon		Female	Yes	No	Unaffected mother of 219150.1.1