Rare Disease Library

DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome

Intermediate DEND syndrome

Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form

Amish infantile epilepsy syndrome

Infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Feigenbaum-Bergeron-Richardson syndrome · Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome

CHD4-related neurodevelopmental disorder

Sifrim-Hitz-Weiss syndrome · CHD4-related neurodevelopmental syndrome

Congenital cataract-hearing loss-severe developmental delay syndrome

Congenital cataract-deafness-severe developmental delay syndrome · Lethal neurodegenerative disorder due to copper transport defect

Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome

Contractures-developmental delay-Pierre Robin syndrome

5q23 microdeletion syndrome

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

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

NR4A2-related neurodevelopmental syndrome

Epilepsy syndrome

Grubben-de Cock-Borghgraef syndrome

Developmental delay-hypotonia-extremities hypertrophy syndrome

Macrocephaly-developmental delay syndrome

MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome

Neonatal-infantile onset epilepsy syndrome

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

Kaya-Barakat-Masson syndrome · KABAMAS

OBSOLETE: Microcephaly-seizures-developmental delay syndrome

OBSOLETE: MCSZ

OBSOLETE: Neonatal epilepsy syndrome

Ocular anomalies-axonal neuropathy-developmental delay syndrome

Harel-Yoon syndrome

Pancytopenia-developmental delay syndrome

Trilineage bone marrow failure-developmental delay syndrome

Pili torti-developmental delay-neurological abnormalities syndrome

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

RERE-related neurodevelopmental syndrome

Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency

Severe congenital neutropenia-developmental delay syndrome due to signal recognition protein 54 deficiency · SCN-developmental delay syndrome due to SRP54 deficiency

Spastic paraplegia-severe developmental delay-epilepsy syndrome

SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome