Rare Disease Library

Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome

HNRNPR-related neurodevelopmental disorder

Nicolaides-Baraitser syndrome

Intellectual disability-sparse hair-brachydactyly syndrome

Non-specific autoimmune brainstem encephalitis with characteristic antibodies

Non-specific autoimmune rhombencephalitis with characteristic antibodies · Non-specific autoimmune rhomboencephalitis with characteristic antibodies

Non-specific autoimmune brainstem encephalitis without characteristic antibodies

Non-specific autoimmune rhombencephalitis without characteristic antibodies · Non-specific autoimmune rhomboencephalitis without characteristic antibodies

OBSOLETE: Argyrophilic grain disease

OBSOLETE: Braak disease

OBSOLETE: Arthrogryposis-epileptic seizures-migrational brain disorder syndrome

OBSOLETE: Brain stem tumor

OBSOLETE: Hypertrophic cardiomyopathy due to intensive athletic training

OBSOLETE: Not NOTCH3-related small vessel disease of the brain

Paraneoplastic isolated brainstem encephalitis

Paraneoplastic isolated rhombencephalitis · Paraneoplastic isolated rhomboencephalitis

Piebald trait-neurologic defects syndrome

Telfer-Sugar-Jaeger syndrome

PMP22-RAI1 contiguous gene duplication syndrome

Yuan-Harel-Lupski syndrome · 17p11.2p12 microduplication syndrome

Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature

Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature

Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Sporadic fetal brain disruption sequence

Temple-Baraitser syndrome

Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome · TMBTS

Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome

Reactive angioendotheliomatosis

RA · Cutaneous reactive dermatoses