618065.1

Country

United Arab Emirates

HPO Terms

Global developmental delay; Failure to thrive; Short stature; Brachycephaly; Microcephaly; Cerebellar atrophy; Cerebellar vermis atrophy; Decreased intracranial pressure; Hypotonia; Ataxia; Dyskinesia; Hyperextensible hand joints; Ulnar deviation of the hand; Fibular deviation of toes; Facial hirsutism; Synophrys; Long eyelashes; Depressed nasal bridge; Short nose; Anteverted nares; Smooth philtrum; High palate; Micrognathia; Capillary hemangioma; Sacral dimple

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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_005033.3:c.41T>C	2		Pontocerebellar Hypoplasia, Type 1D

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Remarks

The patient had 2 second cousins with psychomotor retardation and brain atrophy

References

Bizzari et al. 2020