613155.1.1

Country

Lebanon

HPO Terms

Generalized hypotonia; Primary microcephaly; Intellectual disability, severe; Delayed speech and language development; Tetraparesis; Strabismus; Scoliosis; Flexion contracture; Hip dislocation; Recurrent fractures; Osteoporosis; Elevated circulating creatine kinase concentration; Respiratory insufficiency due to muscle weakness; Neuromuscular dysphagia; Weight loss; Respiratory tract infection; Death in childhood; Trigonocephaly; Cerebellar vermis hypoplasia

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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_007171.4:c.226G>C	1		Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
NM_001077365.2:c.443C>A	1		Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1

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References

von der Hagen et al. 2020

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
613155.1.2	Lebanon	Generalized hypotonia; Primary microcephaly; Intellectual disability, severe; Delayed speech and language development; Tetraparesis; Strabismus; Scoliosis; Flexion contracture; Hip dislocation; Left ventricular noncompaction cardiomyopathy; Obstructive sleep apnea; Intellectual disability, moderate; Trigonocephaly; Cerebellar vermis hypoplasia; Hypoplasia of the corpus callosum; Focal white matter lesions	Female	Yes	Yes	Younger sister of the proband 613155.1.1
613155.1.3	Lebanon		Female	Yes		Mother of the proband 613155.1.1
613155.1.4	Lebanon		Male	Yes		Father of the proband 613155.1.1