Rare Disease Library

Right isomerism

Ivemark syndrome · Right atrial isomerism

Combined immunodeficiency due to RELA haploinsufficiency

RELA-associated inflammatory disease · CID due to RELA haploinsufficiency

Osteosclerotic bone dysplasia

Raine syndrome

ARX-related encephalopathy-brain malformation spectrum

Athabaskan brainstem dysgenesis syndrome

ABSD · Athabascan brainstem dysgenesis syndrome

Autosomal dominant dystrophic epidermolysis bullosa, Cockayne-Touraine type

DDEB, Cockayne-Touraine type

Baraitser-Winter cerebrofrontofacial syndrome

Bickerstaff brainstem encephalitis

Bosley-Salih-Alorainy syndrome

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

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

Brain arteriovenous malformation

Cerebral arteriovenous malformation

Brain dopamine-serotonin vesicular transport disease

Brain inflammatory disease

Brain malformation-congenital heart disease-postaxial polydactyly syndrome

Goossens-Devriendt syndrome

Brain-lung-thyroid syndrome

Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome

Clark-Baraitser syndrome

Combined immunodeficiency due to ORAI1 deficiency

CID due to ORAI1 deficiency

Congenital brain dysgenesis due to glutamine synthetase deficiency

Inherited GS deficiency · Inherited glutamine synthetase deficiency

Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies

Lissencephaly type 2 with muscular and ocular involvement · MDDGA

Early-onset epilepsy-intellectual disability-brain anomalies syndrome

Congenital disorder of glycosylation due to PIGG deficiency · PIGG-CDG

Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome

Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome

Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome · PEBAS

Familial or sporadic hemiplegic migraine

Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome

Ornithine decarboxylase deficiency · Bachmann-Bupp syndrome

Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome

Hengel-Maroofian-Schols syndrome · BCAS3-related neurodevelopmental disorder

Hypomyelination with brain stem and spinal cord involvement and leg spasticity

HBSL

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

Autosomal recessive intellectual disability due to TRAPPC9 deficiency

Interstitial lung disease-brain calcification syndrome

Interstitial lung disease-brain calcification syndrome, Rajab type · Developmental delay-brain calcification-interstitial lung disease syndrome

KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome

Alkuraya-Kucinskas syndrome

Lacrimal drainage system anomaly

Excretory apparatus of the lacrimal system anomaly

Lacrimal drainage system anomaly of genetic origin

Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

LBSL · Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome

Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

COXPD12 · LTBL

Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies

RHOA-related mosaic ectodermal dysplasia

Microcephaly-brain defect-spasticity-hypernatremia syndrome

Franek-Bocker-Kahlen syndrome

Microphthalmia with brain and digit anomalies

Bakrania-Ragge syndrome · MCOPS6

Microphthalmia-brain atrophy syndrome

MCOPS10 · MOBA syndrome

Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome

Moderate and severe traumatic brain injury

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Muscle-eye-brain disease with bilateral multicystic leucodystrophy

MEB disease with bilateral multicystic leucodystrophy

Neonatal brainstem dysfunction

Neonatal hypoxic and ischemic brain injury

HIE · Hypoxic and ischemic brain injury in the newborn

Neurodegeneration with brain iron accumulation

NBIA

Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome

Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects · HNRPH1-related neurodevelopmental disorder