TaoMedAI/RareMedData huggingface dataset:
Gene: PSAP
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: CNS demyelination (HP:0007305)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: CNS demyelination (HP:0007305)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Hyperesthesia (HP:0100963)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Clonic seizure (HP:0020221)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Poor head control (HP:0002421)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Hypertonia (HP:0001276)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Elevated circulating chitotriosidase activity (HP:6000611)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Mental deterioration (HP:0001268)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Seizure (HP:0001250)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Seizure (HP:0001250)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Seizure (HP:0001250)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Seizure (HP:0001250)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Seizure (HP:0001250)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Seizure (HP:0001250)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Seizure (HP:0001250)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)
Gene: PSAP
Phenotype: Ataxia (HP:0001251)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Dysarthria (HP:0001260)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Spasticity (HP:0001257)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Spasticity (HP:0001257)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Spasticity (HP:0001257)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Spasticity (HP:0001257)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:619491)
Gene: PSAP
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Reduced brain glutamate level by MRS (HP:0031161)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Dystonia (HP:0001332)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Dystonia (HP:0001332)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Dystonia (HP:0001332)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Dystonia (HP:0001332)
Associated disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)
Gene: PSAP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Tremor (HP:0001337)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:619491)
Gene: PSAP
Phenotype: Myoclonus (HP:0001336)
Associated disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)
Gene: PSAP
Phenotype: Myoclonus (HP:0001336)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Myoclonus (HP:0001336)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Myoclonus (HP:0001336)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Myoclonus (HP:0001336)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Bone pain (HP:0002653)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Atypical Gaucher disease due to saposin C deficiency (ORPHA:309252)
Gene: PSAP
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Dysphagia (HP:0002015)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Vomiting (HP:0002013)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Temperature instability (HP:0005968)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Increased cerebral lipofuscin (HP:0011813)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Intention tremor (HP:0002080)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Intention tremor (HP:0002080)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Intention tremor (HP:0002080)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)
Gene: PSAP
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)
Gene: PSAP
Phenotype: Gait ataxia (HP:0002066)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Gait ataxia (HP:0002066)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Rigidity (HP:0002063)
Associated disease: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:619491)
Gene: PSAP
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Chorea (HP:0002072)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Neoplasm of the gallbladder (HP:0100575)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Babinski sign (HP:0003487)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: Babinski sign (HP:0003487)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Babinski sign (HP:0003487)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Babinski sign (HP:0003487)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: Babinski sign (HP:0003487)
Associated disease: METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY (OMIM:249900)
Gene: PSAP
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Status epilepticus (HP:0002133)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Arylsulfatase A deficiency, adult form; Metachromatic leukodystrophy, adult form; MLD, adult form (ORPHA:309271)
Gene: PSAP
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: MLD, late infantile form; Metachromatic leukodystrophy, late infantile form; Arylsulfatase A deficiency, late infantile form (ORPHA:309256)
Gene: PSAP
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: MLD, juvenile form; Metachromatic leukodystrophy, juvenile form; Arylsulfatase A deficiency, juvenile form (ORPHA:309263)
Gene: PSAP
Phenotype: Opisthotonus (HP:0002179)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: PSAP
Phenotype: Middle age onset (HP:0003596)
Associated disease: PARKINSON DISEASE 24, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:619491)
Gene: PSAP
Phenotype: Infantile onset (HP:0003593)
Associated disease: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY (OMIM:611722)
Gene: PSAP
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COMBINED SAPOSIN DEFICIENCY (OMIM:611721)
Gene: PSAP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY (OMIM:610539)
Gene: PSAP
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Encephalopathy due to prosaposin deficiency; Combined prosaposin deficiency (ORPHA:139406)