Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation

Autosomal dominant

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation

Autosomal dominant

Congenital myasthenic syndrome due to a sodium channel 1.4 defect

Autosomal recessive

Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis

Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine

Autosomal recessive

Congenital myasthenic syndrome with glycosylation defect

Autosomal recessive

Infancy, Neonatal

Congenital myasthenic syndrome with kinetic defect

Autosomal dominant, Autosomal recessive

Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance

Autosomal recessive

Congenital myasthenic syndromes due to defective axonal transport

Autosomal recessive

Cystinuria type A

Autosomal recessive

Cystinuria type B

Semi-dominant

DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

Autosomal dominant

Childhood, Infancy, Neonatal

DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy

Autosomal dominant

Adult, Antenatal, Childhood, Infancy, Neonatal

DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion

Not applicable, Unknown

Infancy, Neonatal

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

Not applicable

Antenatal, Neonatal

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

Autosomal dominant

Developmental delay-macrocephaly-corpus callosum dysgenesis-intellectual disability syndrome due to NFIB mutation

Autosomal dominant

Distal duplication 15q syndrome

Antenatal, Neonatal

Distal triplication 15q syndrome

Not applicable, Unknown

Infancy, Neonatal

Drug-related renal tubular dysgenesis

Not applicable

East Texas bleeding disorder

Autosomal dominant

Childhood

Factor V Amsterdam bleeding disorder

Autosomal dominant

No data available

Factor V Atlanta bleeding disorder

Autosomal dominant

No data available

Familial GPIHBP1 deficiency

Autosomal recessive

Adult