Rare Disease Library

Autosomal spastic paraplegia type 58

SPAX2 · Autosomal spastic ataxia type 2

Autosomal spastic paraplegia type 72

SPG72

Bartsocas-Papas syndrome

Autosomal recessive popliteal pterygium syndrome · Lethal popliteal pterygium syndrome

Blepharospasm-oromandibular dystonia syndrome

Meige dystonia · Meige syndrome

Childhood-onset spasticity with hyperglycinemia

Childhood-onset spasticity with variant non-ketotic hyperglycinemia · Spasticity-ataxia-gait anomalies syndrome

Combined pancreatic lipase-colipase deficiency

Complex hereditary spastic paraplegia

Complex HSP · Complex SPG

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

ELOVL4-related neuro ichthyosis · Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome

Cryptogenic late-onset epileptic spasms

Late-onset infantile spasms

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

PLA2G4A-related platelet dysfunction · Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency

Defect in V-ATPase

Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

Kugelberg-Welander disease · SMA

Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome

Autosomal recessive spastic paraplegia type 79

Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome

Autosomal recessive spastic ataxia type 5 · SPAX5

Familial lipase maturation factor 1 deficiency

Familial LMF1 deficiency

Familial lipoprotein lipase deficiency

LPL deficiency

Hemifacial spasm

Facial hemispasm · Focal myoclonus of face

Hereditary geniospasm

Familial trembling of the chin · Hereditary chin myoclonus

Hereditary spastic paraplegia

Familial spastic paraplegia · HSP

Hyperlipidemia due to hepatic triacylglycerol lipase deficiency

Hyperlipidemia due to hepatic lipase deficiency · Hyperlipidemia due to HL deficiency

Hypomyelination with brain stem and spinal cord involvement and leg spasticity

HBSL

IFIH1-related hereditary spastic paraplegia

Interferon induced with helicase C domain 1-related hereditary spastic paraplegia

Infantile epileptic spasms syndrome

IESS

Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome

HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome · HPDL-related Leigh-like encephalopathy

Infantile spasms-broad thumbs syndrome

Tsao-Ellingson syndrome

Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome

Infantile-onset ascending hereditary spastic paralysis

IAHSP

Inherited congenital spastic tetraplegia

Inherited congenital spastic quadriplegia

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

CTNNB1-related neurodevelopmental disorder · CTNNB1-NDD

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome

Kyphoscoliosis-lateral tongue atrophy-HSP syndrome

Lethal neonatal spasticity-epileptic encephalopathy syndrome

Lethal neonatal rigidity-multifocal seizure syndrome

Lewis-Pashayan syndrome

Cleft lip/palate-ectrodactyly syndrome

Lysosomal acid lipase deficiency

LAL deficiency · LALD

Macrocephaly-spastic paraplegia-dysmorphism syndrome

Fryns macrocephaly

Microcephaly-brain defect-spasticity-hypernatremia syndrome

Franek-Bocker-Kahlen syndrome

MT-ATP6-related mitochondrial spastic paraplegia

Maternally-inherited spastic paraplegia · Maternally-inherited SPG

Mutilating hereditary sensory neuropathy with spastic paraplegia

Mutilating HSAN with spastic paraplegia

Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome

Kaya-Barakat-Masson syndrome · KABAMAS

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

OBSOLETE: Benign essential blepharospasm

OBSOLETE: Primary blepharospasm

OBSOLETE: Spastic diplegia, infantile type

OBSOLETE: Little syndrome

OBSOLETE: Spinocerebellar degenerescence and spastic paraparesis with an oculomotor anomaly

Palmoplantar keratoderma-spastic paralysis syndrome

Palmoplantar hyperkeratosis-spastic paralysis syndrome · Powell-Venencie-Gordon syndrome

Pancreatic colipase deficiency

Pancreatic triacylglycerol lipase deficiency

Pancreatic triglyceride lipase deficiency

PAPASH syndrome

Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome