Rare Disease Library

Developmental delay with autism spectrum disorder and gait instability

Developmental delay with ASD and gait instability

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion

Del(2)(q24) · Monosomy 2q24

Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation

NR4A2-related neurodevelopmental syndrome

Developmental malformations-deafness-dystonia syndrome

Developmental malformations-hearing loss-dystonia syndrome

DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome

DIAPH1-related sensorineural deafness-thrombocytopenia syndrome

Diazoxide-resistant diffuse hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-resistant diffuse form

Diazoxide-resistant focal hyperinsulinism

Hyperinsulinemic hypoglycemia, diazoxide-resistant focal form