Rare Disease Library

Blepharophimosis-intellectual disability syndrome, Verloes type

BMRS type V · BMRS, Verloes type

Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome

Blepharophimosis-ptosis-epicanthus inversus syndrome

BPES

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome

Frydman-Cohen-Karmon syndrome

BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies · BPTF-related NEDDFL

Brachymorphism-onychodysplasia-dysphalangism syndrome

BOD syndrome · Senior syndrome

Brachytelephalangy-dysmorphism-Kallmann 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

Branchial arch or oral-acral syndrome

Branchio-oculo-facial syndrome

BOFS

Branchiogenic deafness syndrome

Mégarbané-Loiselet syndrome · Branchiogenic hearing loss syndrome

Branchiootic syndrome

Branchioskeletogenital syndrome

Elsahy-Waters syndrome · BSG syndrome

Bronchial malformation

Bronchial neuroendocrine tumor

Bronchial NET

Bronchiectasis-oligospermia syndrome

Bronchiolitis obliterans

Constrictive bronchiolitis · Obliterative bronchiolitis

Budd-Chiari syndrome

BCS

Bulbospinal muscular atrophy of childhood

Kugelberg-Welander disease · SMA

Bullous pemphigoid

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

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

Cardiomyopathy-cataract-hip spine disease syndrome

Krasnow-Qazi syndrome

Carnitine palmitoyl transferase II deficiency, myopathic form

CPT2, myopathic form · CPTII, adult-onset form

Catastrophic antiphospholipid syndrome

CAPS · Catastrophic APS

Catecholaminergic polymorphic ventricular tachycardia

Polymorphic ventricular tachycardia induced by catecholamines · CPVT

CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

CDK13-related disorder

CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome

CAIN

CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome

CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome

Snijders Blok-Campeau syndrome

Chédiak-Higashi syndrome

Chédiak-Higashi disease · Chédiak-Higashi-Steinbrink syndrome

Chikungunya

Chilblain lupus

CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects · CHILD nevus

Childhood absence epilepsy

Pyknolepsy

Childhood disintegrative disorder

Heller syndrome · Dementia infantilis

Childhood encephalopathy due to thiamine pyrophosphokinase deficiency

Childhood occipital visual epilepsy

COVE · Idiopathic chilldhood occipital epilepsy-Gastaut type

Childhood-onset autosomal recessive myopathy with external ophthalmoplegia

Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia

Autosomal recessive spinocerebellar ataxia type 7 · SCAR7

Childhood-onset basal ganglia degeneration syndrome

Lenk-Ploski syndrome

Childhood-onset benign chorea with striatal involvement

Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency

Childhood-onset CVID phenotype due to ARHGEF1 deficiency · Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency

Childhood-onset epilepsy syndrome

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder

CONDBA