Rare Disease Library

Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome

Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome · Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

CLIFAHDD syndrome

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

Grubben-de Cock-Borghgraef syndrome

Developmental delay-hypotonia-extremities hypertrophy syndrome

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome

Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

Neurodevelopmental delay-intellectual disability-skeletal defects syndrome

HNRNPH2-Related Neurodevelopmental Disorder

Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome

GPAA1-related biosynthesis defect

Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome

Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome

Radioulnar synostosis-developmental delay-hypotonia syndrome

Der Kaloustian-McIntosh-Silver syndrome

Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome