Rare Disease Library

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

3-methylglutaconic aciduria type 3

Autosomal recessive optic atrophy plus syndrome · Autosomal recessive optic atrophy type 3

Antecubital pterygium syndrome

Autosomal anomaly syndrome

Autosomal dominant multiple pterygium syndrome

Distal arthrogryposis type 8

Autosomal dominant popliteal pterygium syndrome

Facio-genito-popliteal syndrome · Popliteal web syndrome

Autosomal monosomy syndrome

Autosomal deletion

Autosomal recessive Alport syndrome

Autosomal recessive amelia

Autosomal recessive cerebellar ataxia-movement disorder syndrome

SCAR4 · SCASI

Autosomal recessive cerebellar ataxia-psychomotor delay syndrome

Autosomal recessive spinocerebellar ataxia type 11 · SCAR11

Autosomal recessive chorioretinopathy-microcephaly syndrome

Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Autosomal recessive complex spastic paraplegia

Autosomal recessive complex HSP · Autosomal recessive complex SPG

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive distal osteolysis syndrome

Distal osteolysis-short stature-intellectual disability syndrome · Petit-Fryns syndrome

Autosomal recessive distal renal tubular acidosis

AR dRTA · Autosomal recessive distal RTA

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Autosomal recessive faciodigitogenital syndrome

Aarskog-like syndrome · Facio-digito-genital syndrome, Kuwait type

Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency

AR-HIES due to ZNF341 deficiency · Autosomal recessive HIES due to ZNF341 deficiency

Autosomal recessive isolated optic atrophy

Autosomal recessive non-syndromic optic atrophy

Autosomal recessive Kenny-Caffey syndrome

Autosomal recessive multiple pterygium syndrome

Autosomal recessive non-lethal multiple pterygium syndrome · EVMPS

Autosomal recessive non-syndromic intellectual disability

AR-NSID · NS-ARID

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

Autosomal recessive Robinow syndrome

COVESDEM syndrome · Costovertebral segmentation defect-mesomelia syndrome

Autosomal recessive spastic ataxia

AR-SPAX

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

Autosomal recessive spastic paraplegia type 25

Autosomal recessive spastic paraplegia-disc herniation syndrome · SPG25

Autosomal recessive Stickler syndrome

Autosomal recessive syndromic cerebellar ataxia

Autosomal trisomy syndrome

Autosomal duplication

Congenital hereditary endothelial dystrophy type II

Congenital hereditary endothelial dystrophy type 2 · Infantile hereditary endothelial dystrophy

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Generalized pseudohypoaldosteronism type 1

Autosomal recessive pseudohypoaldosteronism type 1 · Autosomal recessive PHA1

Lethal multiple pterygium syndrome

Autosomal recessive lethal multiple pterygium syndrome · LMPS

MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

MYBPC1-related autosomal recessive non-lethal AMC syndrome

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

OBSOLETE: Autosomal recessive syndromic optic atrophy

Popliteal pterygium syndrome

Progressive autosomal recessive ataxia-deafness syndrome

Lichtenstein-Knorr syndrome · Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome