Rare Disease Library

Alpha-thalassemia and related disorders

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Beta-thalassemia and related disorders

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

CDK13-related disorder

CHD4-related neurodevelopmental disorder

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

Common variable immunodeficiency and related disorders

CVID and related disorders

Congenital disorder of glycosylation-related bone disorder

CDG-related bone disorder

CTCF-related neurodevelopmental disorder

Disorder of lysosomal-related organelles

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

Fetal alcohol syndrome

ARBD · ARND

Filamin-related bone disorder

Bone filaminopathy

Human herpesvirus 8-related disorder

HHV-8-related disorder

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

BCL11B-related neurodevelopmental disorder

Joubert syndrome and related disorders

JSRD

KAT6B-related multiple congenital anomalies syndrome

KAT6B-related disorder

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

Marfan syndrome and Marfan-related disorders

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome

Radio-Tartaglia syndrome · SPEN-related neurodevelopmental disorder

Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome

DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome · DHX30-related neurodevelopmental disorder

OBSOLETE: Aggrecan-related bone disorder

OBSOLETE: Perlecan-related bone disorder

Osteopetrosis and related disorders

Proteoglycan-related bone disorder

Recessive KLHL7-related disorder

Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder

SPOAN and SPOAN-related disorder

Sulfation-related bone disorder

Thrombomodulin-related bleeding disorder

THBD-related bleeding disorder · THBD-related coagulopathy

TRPV4-related bone disorder

Turnpenny-Fry syndrome

PCGF2-related disorder · TPFS

Type 11 collagen-related bone disorder

Type 2 collagen-related bone disorder