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Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.","A rare X-linked syndromic intellectual disability characterised by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females."],"subClassOf":["http://purl.bioontology.org/ontology/SNOMEDCT/363070008","http://purl.bioontology.org/ontology/SNOMEDCT/400038003","http://purl.bioontology.org/ontology/SNOMEDCT/1362108000","http://purl.bioontology.org/ontology/SNOMEDCT/1162976004"],"parents":[{"id":"http://purl.bioontology.org/ontology/SNOMEDCT/363070008","synonym":["Developmental hereditary disorder (disorder)"],"notation":"363070008","semanticType":["http://purl.bioontology.org/ontology/STY/T046"],"cui":["C1285243"],"prefLabel":"Developmental hereditary 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It has been described in four generations of one family. Premature death was reported in the affected males. Transmission is X-linked recessive and the causative gene has been located to the q28 region of the X chromosome.","A rare X-linked syndromic intellectual disability characterized by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. No evident heterozygous manifestation has been reported in females.","A rare X-linked syndromic intellectual disability characterised by global developmental delay and severe intellectual disability, seizures, and recurrent lower respiratory tract infections, resulting in premature death in affected males. Additional reported manifestations include mild dysmorphic facial features (such as epicanthic folds, high nasal bridge, or small mouth), gait disturbances, brisk tendon reflexes, delayed bone age, and tapering fingers. 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