Rare Disease Library

TRAPPC11-related limb-girdle muscular dystrophy R18

LGMD2S · Autosomal recessive limb-girdle muscular dystrophy type 2S

Twin-reversed arterial perfusion sequence

TRAP

Tumor necrosis factor receptor 1 associated periodic syndrome

Familial Hibernian fever · TNF receptor 1-associated periodic syndrome

Alopecia-hypogonadism-extrapyramidal syndrome

Devriendt-Legius-Fryns syndrome

Anterior cutaneous nerve entrapment syndrome

ACNES · Intercostal nerve syndrome

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

CONDBA

Congenital ichthyosis-microcephalus-tetraplegia syndrome

Congenital ichthyosis-microcephalus-quadriplegia syndrome

Extrapelvic endometriosis

Endometriosis outside pelvis

Inherited congenital spastic tetraplegia

Inherited congenital spastic quadriplegia

Intellectual disability-epilepsy-extrapyramidal syndrome

Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations

Proximal myopathy with extrapyramidal signs

Pudendal nerve entrapment syndrome

Alcock syndrome · Pudendal algia

Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome

Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome

Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

ASCT1 deficiency · Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome

Tetraploidy syndrome