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Autosomal recessive hereditary spastic paraplegia
Autosomal recessive hereditary spastic paraplegia (AR HSP, Strümpell-Lorrain syndrome) is a recessively inherited form of HSP causing progressive lower limb spasticity; SPG11 is the most common gene, prevalence about 1.8 per 100,000.
Autosomal recessive hypophosphatemic rickets
Autosomal recessive hypophosphatemic rickets (ARHR) is a rare inherited disorder in which the kidneys waste phosphate, causing childhood rickets, bone pain, slow growth, and skeletal deformities.
Autosomal recessive infantile hypercalcemia
Autosomal recessive infantile hypercalcemia, also called infantile hypercalcemia 1 or 2 and formerly idiopathic infantile hypercalcemia, is a rare CYP24A1 or SLC34A1 disorder causing excess active vitamin D, hypercalcemia, suppressed PTH, and nephrocalcinosis in infants.
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive lower motor neuron disease with childhood onset, also DSMA4 (ORPHA:206580, OMIM 611067), is an ultra-rare PLEKHG5-related neuromuscular disease causing childhood proximal and distal weakness progressing to areflexic tetraplegia and respiratory failure.
Autosomal recessive malignant osteopetrosis
Autosomal recessive malignant osteopetrosis (ARO, infantile malignant osteopetrosis, ORPHA:667) is a severe congenital bone-resorption disorder with skeletal densification, marrow failure, fractures, and blindness; mainly TCIRG1 or CLCN7 mutations, treated by HSCT.
Autosomal recessive multiple pterygium syndrome
Autosomal recessive multiple pterygium syndrome, also called Escobar syndrome or EVMPS, is a rare non-lethal congenital disorder with neck and joint pterygia, arthrogryposis, and short stature, usually caused by CHRNG mutations.
Autosomal recessive nail dysplasia
Autosomal recessive nail dysplasia (NDNC10, OMIM 161050) is a rare FZD6-related Wnt-pathway disorder causing claw-shaped, thick, onycholytic nails on all 20 digits, with no other ectodermal or systemic abnormalities.
Autosomal recessive otospondylomegaepiphyseal dysplasia
Autosomal recessive otospondylomegaepiphyseal dysplasia (OSMED type B, Nance–Insley syndrome, OMIM 215150) is a rare COL11A2 skeletal dysplasia with profound sensorineural hearing loss, short limbs, cleft palate, and no eye involvement.
Autosomal recessive polycystic kidney disease
Autosomal recessive polycystic kidney disease (ARPKD, infantile PKD) is a rare ciliopathy affecting 1 in 20,000 children, caused mainly by PKHD1 mutations, with enlarged cystic kidneys, congenital hepatic fibrosis, and about 30% first-week newborn mortality.
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
CD16 deficiency (ORPHA:437552, OMIM 615707) is a rare autosomal recessive primary immunodeficiency caused by homozygous FCGR3A L66H, giving deficient spontaneous NK cell cytotoxicity with preserved ADCC and recurrent EBV, HSV, and HPV infections.
Autosomal recessive sideroblastic anemia
Autosomal recessive sideroblastic anemia (ARSA, congenital sideroblastic anemia, SLC25A38 disease) is a rare recessive anemia from SLC25A38 mutations on 3p22.1, causing severe pyridoxine-refractory microcytic anemia and iron overload from infancy.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ARSACS (Charlevoix-Saguenay spastic ataxia, SPAX6) is an autosomal recessive neurodegenerative ataxia caused by SACS gene mutations encoding sacsin, first described in Quebec with birth incidence 1 in 1,932 and now found worldwide.
Autosomal recessive spastic ataxia with leukoencephalopathy
ARSAL (SPAX3, spastic ataxia 3, OMIM 611390) is an ultra-rare autosomal recessive ataxia with leukoencephalopathy caused by MARS2 rearrangements, described in French-Canadian families, onset age 2 to 59.
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome (SPAX4, OMIM 613672) is an ultra-rare MTPAP-related mitochondrial disease with childhood-onset spastic paraparesis, cerebellar ataxia, dysarthria, and optic atrophy; first described in an Old Order Amish family.
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 11 (SPG11, KIAA1840, spatacsin, Nakamura-Osame syndrome): complex hereditary spastic paraplegia with spastic paraparesis, cognitive decline, and thin corpus callosum on MRI, caused by biallelic loss-of-function SPG11 mutations.
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 14 (SPG14, OMIM 605229) is a rare complex hereditary spastic paraplegia mapped to 3q27-q28, with adult-onset spastic paraplegia, mild intellectual disability, visual agnosia, and distal motor neuropathy.
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 20 (SPG20, Troyer syndrome) is a rare complex hereditary spastic paraplegia caused by SPART/SPG20 mutations encoding spartin, with childhood-onset spastic paraparesis, distal amyotrophy, dysarthria, short stature, and a c.1110delA founder variant in the Old Order Amish.
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 21, or Mast syndrome (SPG21), a rare complicated hereditary spastic paraplegia caused by biallelic SPG21/ACP33 mutations at 15q22.31, with spastic paraparesis, dementia, thin corpus callosum, and an Amish founder mutation 601insA.
Autosomal recessive spastic paraplegia type 23
Autosomal recessive spastic paraplegia type 23 (SPG23, Lison syndrome) is a rare childhood-onset hereditary spastic paraplegia with peripheral neuropathy, vitiligo-like pigment changes, premature graying, and characteristic facies; mapped to 1q24-q32, DSTYK, OMIM 270750.
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia type 24 (SPG24, OMIM 607584) is a very rare pure hereditary spastic paraplegia with infantile-onset lower limb spasticity, mapped to 13q14 with no gene identified.
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare hereditary spastic paraplegia beginning in adulthood, combining leg spasticity with spinal pain from disc herniation.
Autosomal recessive spastic paraplegia type 27
Autosomal recessive spastic paraplegia type 27 (SPG27) is a rare hereditary spastic paraplegia causing slowly progressive lower limb spasticity, sometimes with polyneuropathy, dysarthria, and intellectual disability; its gene is unknown.
Autosomal recessive spastic paraplegia type 28
SPG28 (autosomal recessive spastic paraplegia type 28, OMIM 609340) is a rare pure hereditary spastic paraplegia caused by DDHD1 mutations at 14q22.1, with childhood or adolescent onset of slowly progressive lower-limb spasticity and gait difficulty.
Autosomal recessive spastic paraplegia type 35
Autosomal recessive spastic paraplegia type 35 (SPG35, FAHN) is an ultra-rare childhood-onset hereditary spastic paraplegia caused by biallelic FA2H mutations, with dystonia, cognitive decline, seizures, and the WHAT brain imaging signature.
Autosomal recessive spastic paraplegia type 39
Autosomal recessive spastic paraplegia type 39 (SPG39, OMIM 612020) is a rare complex hereditary spastic paraplegia caused by PNPLA6 (neuropathy target esterase) mutations, with childhood onset, spasticity, peripheral neuropathy, and distal muscle wasting.
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 43 (SPG43, OMIM 615043) is a rare complex hereditary spastic paraplegia caused by C19orf12 mutations, with childhood-onset spasticity, distal amyotrophy, and allelic NBIA4.
Autosomal recessive spastic paraplegia type 44
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare hereditary spastic paraplegia caused by GJC2 gene mutations, causing progressive leg spasticity with ataxia and mild cognitive impairment.
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 45, also called SPG45 or SPG65, is a rare hereditary spastic paraplegia beginning in infancy with progressive leg spasticity, caused by mutations in the NT5C2 gene.
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex hereditary spastic paraplegia caused by GBA2 gene mutations, with spastic gait, ataxia, cataracts, and cognitive decline starting in childhood.
Autosomal recessive spastic paraplegia type 48
Autosomal recessive spastic paraplegia type 48 (SPG48, OMIM 613647) is a rare hereditary spastic paraplegia caused by AP5Z1 mutations at 7p22.1, with adult-onset spastic paraplegia, urinary incontinence, and complex features including parkinsonism and thin corpus callosum.