Rare Disease Library

Lipodystrophy-intellectual disability-deafness syndrome

Rajab-Spranger syndrome · Lipodystrophy-intellectual disability-hearing loss syndrome

46,XY complete gonadal dysgenesis

46,XY CGD · 46,XY pure gonadal dysgenesis

Acropectorovertebral dysplasia

F syndrome

Angelman syndrome

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

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal dominant spastic paraplegia type 17

SPG17 · Silver syndrome

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

C syndrome

OTCS · Opitz C trigonocephaly

Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome

Sengers syndrome

Deafness-lymphedema-leukemia syndrome

Hearing loss-lymphedema-leukemia syndrome · Emberger syndrome

Eisenmenger syndrome

Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome

FDLAB syndrome · Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome

Grange syndrome

Grange occlusive arterial syndrome · Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Grant syndrome

H syndrome

Hereditary leiomyomatosis and renal cell cancer

Familial leiomyomatosis and renal cell cancer · Familial leiomyomatosis cutis et uteri

HNF1B-related autosomal dominant tubulointerstitial kidney disease

Renal cysts and diabetes syndrome · HNF1B-MODY

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

N syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Osteopathia striata-cranial sclerosis syndrome

Hyperostosis generalisata with striations · Robinow-Unger syndrome

Osteosclerotic bone dysplasia

Raine syndrome

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Rasmussen subacute encephalitis

Rasmussen syndrome

Ravine syndrome

Progressive encephalopathy with severe infantile anorexia · Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome

Recombinant 8 syndrome

Duplication 8q/deletion 8p · Rec(8) syndrome

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

ROSAH syndrome · Optic nerve edema-splenomegaly syndrome

Rett syndrome

Reye syndrome

RHYNS syndrome

Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 11 syndrome

RC11 · r(11) syndrome

Ring chromosome 22 syndrome

Ring chromosome 22 · Ring 22

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

RNU4-2-related autosomal dominant neurodevelopmental disorder

ReNU syndrome

Rombo syndrome

Rotor syndrome

Hyperbilirubinemia, Rotor type

Rudiger syndrome

Serpentine fibula-polycystic kidneys syndrome

Exner syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Spastic paraplegia-severe developmental delay-epilepsy syndrome

SPPRS syndrome · Spastic paraplegia-psychomotor retardation-seizures syndrome

Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome

Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome · Wahab syndrome