TaoMedAI/RareMedData huggingface dataset:
Gene: GALC
Phenotype: Delayed brainstem auditory evoked response conduction time (HP:0004466)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Delayed brainstem auditory evoked response conduction time (HP:0004466)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Reduced tissue galactocerebrosidase activity (HP:0034322)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Reduced tissue galactocerebrosidase activity (HP:0034322)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Reduced tissue galactocerebrosidase activity (HP:0034322)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Reduced tissue galactocerebrosidase activity (HP:0034322)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Hyperpyrexia (HP:0033031)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Increased head circumference (HP:0040194)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Hearing impairment (HP:0000365)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Abnormal flash visual evoked potentials (HP:0007928)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Inappropriate crying (HP:0030215)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Pes cavus (HP:0001761)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Pes cavus (HP:0001761)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Weight loss (HP:0001824)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Visual impairment (HP:0000505)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Visual loss (HP:0000572)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Visual loss (HP:0000572)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Visual loss (HP:0000572)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Esotropia (HP:0000565)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALE
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Hypotonia (HP:0001252)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Galactosuria (HP:0012023)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Hypergalactosemia (HP:0012024)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Hypergalactosemia (HP:0012024)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Vomiting (HP:0002013)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Decreased beta-galactosidase activity (HP:0008166)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Neonatal onset (HP:0003623)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Anemia (HP:0001903)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Giant platelets (HP:0001902)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Childhood onset (HP:0011463)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Childhood onset (HP:0011463)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Reduced erythrocyte galactose-1-phosphate uridylyltransferase activity (HP:4000208)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Jaundice (HP:0000952)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Macrothrombocytopenia (HP:0040185)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Megakaryocyte nucleus hypolobulation (HP:0031385)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Tricuspid valve prolapse (HP:0001704)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Splenomegaly (HP:0001744)
Associated disease: GALACTOSEMIA III (OMIM:230350)
Gene: GALE
Phenotype: Epistaxis (HP:0000421)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Cataract (HP:0000518)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Megakaryocyte dysplasia (HP:0031689)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Pancytopenia (HP:0001876)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: GALE
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: THROMBOCYTOPENIA 13, SYNDROMIC (OMIM:620776)
Gene: B4GALNT1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Impaired vibration sensation at ankles (HP:0006938)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Posterior capsular cataract (HP:0100020)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Emotional lability (HP:0000712)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Decreased serum testosterone concentration (HP:0040171)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Pes cavus (HP:0001761)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: B4GALNT1
Phenotype: Early young adult onset (HP:0025708)
Associated disease: SPASTIC PARAPLEGIA 26, AUTOSOMAL RECESSIVE (OMIM:609195)
Gene: B4GALNT1
Phenotype: Cataract (HP:0000518)
Associated disease: Autosomal recessive spastic paraplegia type 26; SPG26; GM2 synthase deficiency (ORPHA:101006)
Gene: GALK1
Phenotype: Motor delay (HP:0001270)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Seizure (HP:0001250)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: GALACTOSEMIA II (OMIM:230200)
Gene: GALK1
Phenotype: Reduced erythrocyte galactokinase activity (HP:6000723)
Associated disease: GALACTOSEMIA II (OMIM:230200)
Gene: GALK1
Phenotype: Galactosuria (HP:0012023)
Associated disease: GALACTOSEMIA II (OMIM:230200)
Gene: GALK1
Phenotype: Hypergalactosemia (HP:0012024)
Associated disease: GALACTOSEMIA II (OMIM:230200)
Gene: GALK1
Phenotype: Hypergalactosemia (HP:0012024)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALACTOSEMIA II (OMIM:230200)
Gene: GALK1
Phenotype: Increased level of galactitol in urine (HP:0410062)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Increased level of galactitol in plasma (HP:0410061)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Nuclear cataract (HP:0100018)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Neonatal asphyxia (HP:0012768)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Reduced circulating complement concentration (HP:0004431)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)
Gene: GALK1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Galactokinase deficiency galactosemia; Galactokinase deficiency; GALK-D; Galactosemia type 2; GALK deficiency (ORPHA:79237)