619641.1.1

Country

Palestine

HPO Terms

Motor delay; Intellectual disability, severe; Absent speech; Hyperreflexia; Spastic gait; Lower limb spasticity; Abnormal facial shape; Strabismus; Ptosis; Bicuspid aortic valve; Thin corpus callosum; Cerebral atrophy; Cerebellar atrophy; Contractures involving the joints of the feet

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_017679.5:c.726T>G	2	NA	Hengel-Maroofian-Schols Syndrome

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Remarks

Patient from 'family 2' in the publication.

References

Hengel et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619641.1.2	Palestine	Motor delay; Intellectual disability, severe; Absent speech; Hyperreflexia; Lower limb spasticity; Abnormal facial shape; Strabismus; Ptosis; Bicuspid aortic valve; Thin corpus callosum; Cerebral atrophy; Cerebellar atrophy; Inability to walk; Contractures involving the joints of the feet	Male	Yes	Yes	Brother of 619641.1.1
619641.1.3	Palestine	Motor delay; Intellectual disability, severe; Hyperreflexia; Lower limb spasticity; Abnormal facial shape; Strabismus; Thin corpus callosum; Cerebral atrophy; Cerebellar atrophy; Seizure; Spastic gait; Abnormal saccadic eye movements; Poor speech	Female	Yes	Yes	Sister of 619641.1.1
619641.1.4	Palestine		Male			Father of 619641.1.1
619641.1.5	Palestine		Female			Mother of 619641.1.1