252500.4

Saudi Arabia

Recurrent fractures; Neonatal hypotonia; Recurrent lower respiratory tract infections

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_024312.5:c.3653del	2	NA	Mucolipidosis II Alpha/Beta

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
252500.1	Saudi Arabia		Unknown
252500.2	Saudi Arabia					Infantile onset
252500.3	Saudi Arabia	Skeletal dysplasia; Proptosis; Short neck; Thoracic hypoplasia; Congenital bilateral hip dislocation	Male	Yes	Yes