Rare Disease Library

ICHAD syndrome

Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome

Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome

Okamoto syndrome · HNRNPK-related neurodevelopmental disorder

Ossification anomalies-psychomotor developmental delay syndrome

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome