616900.5.1

Country

Algeria

HPO Terms

Severe global developmental delay; Absent speech; Abnormal periventricular white matter morphology; Broad forehead; Bulbous nose; Open mouth; Thick vermilion border; Mandibular prognathia; Hearing impairment; Behavioral abnormality; Delayed skeletal maturation

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001163435.3:c.1370del	2		Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

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Remarks

Proband

References

Bhoj et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616900.5.2	Algeria	Moderate global developmental delay; Poor speech; Abnormal periventricular white matter morphology; Broad forehead; Macrocephaly; Short neck; Delayed skeletal maturation	Female	Yes	Yes	Sister of 616900.5.1