Rare Disease Library

Immunodeficiency due to selective anti-polysaccharide antibody deficiency

Specific anti-polysaccharide antibody deficiency · Selective anti-polysaccharide antibody deficiency

Exstrophy-epispadias complex

BEEC · Bladder exstrophy-epispadias-cloacal extrophy complex

Hypertelorism-hypospadias-polysyndactyly syndrome

Naguib-Richieri-Costa syndrome · Acrofrontofacionasal dysostosis type 2

Hypospadias-hypertelorism-coloboma and deafness syndrome

Hypospadias-hypertelorism-coloboma and hearing loss syndrome

Hypospadias-intellectual disability, Goldblatt type syndrome

Goldblatt-Wallis syndrome

Isolated epispadias

Isolated female hypospadias

Lower limb malformation-hypospadias syndrome

Fried-Goldberg-Mundel syndrome

Non-syndromic posterior hypospadias

Perineal, scrotal or penoscrotal hypospadias · Hypospadias, severe form

OBSOLETE: Familial hypospadias

OBSOLETE: Myopathy-growth delay-intellectual disability-hypospadias syndrome

OBSOLETE: Spondylocostal dysostosis-hypospadias-intellectual disability syndrome

OBSOLETE: Tracheo-esophageal fistula-hypospadias syndrome

Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome

Schmitt-Gillenwater-Kelly syndrome

Spina bifida-hypospadias syndrome

Autosomal dominant spastic ataxia

AD-SPAX

Autosomal dominant spastic ataxia type 1

SPAX1

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Autosomal recessive spastic ataxia type 6 · ARSACS

Autosomal recessive spastic ataxia with leukoencephalopathy

ARSAL · Autosomal recessive spastic ataxia type 3

Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome

Autosomal recessive spastic ataxia type 4 · SPAX4

Autosomal spastic paraplegia type 58

SPAX2 · Autosomal spastic ataxia type 2

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive spastic ataxia type 5 · SPAX5

NKX6-2-related autosomal recessive hypomyelinating leukodystrophy

Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia · SPAX8

Spastic ataxia

SPAX

Spastic ataxia with congenital miosis

SPAX7 · Autosomal dominant spastic ataxia type 7