TaoMedAI/RareMedData huggingface dataset:
Gene: SLC46A1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Pallor (HP:0000980)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Glossitis (HP:0000206)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: SLC46A1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: Congenital folate malabsorption; Hereditary folate malabsorption (ORPHA:90045)
Gene: SLC46A1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: FOLATE MALABSORPTION, HEREDITARY (OMIM:229050)
Gene: C12orf57
Phenotype: Brachydactyly (HP:0001156)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Hypertonia (HP:0001276)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Seizure (HP:0001250)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Hypotonia (HP:0001252)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Lens luxation (HP:0012019)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Frontal bossing (HP:0002007)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Infantile onset (HP:0003593)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Neonatal onset (HP:0003623)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Aortic aneurysm (HP:0004942)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Iris coloboma (HP:0000612)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Dental crowding (HP:0000678)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Self-mutilation (HP:0000742)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Long face (HP:0000276)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Hip dislocation (HP:0002827)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Lop ear (HP:0000394)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Low-set ears (HP:0000369)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Long philtrum (HP:0000343)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Micrognathia (HP:0000347)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Pes planus (HP:0001763)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Short 2nd toe (HP:0001885)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Microphthalmia (HP:0000568)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: C12orf57
Phenotype: Myopia (HP:0000545)
Associated disease: TEMTAMY SYNDROME (OMIM:218340)
Gene: SLC52A3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Encephalopathy (HP:0001298)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: FAZIO-LONDE DISEASE (OMIM:211500)
Gene: SLC52A3
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Hypotonia (HP:0001252)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Ataxia (HP:0001251)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Death in childhood (HP:0003819)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Facial diplegia (HP:0001349)
Associated disease: FAZIO-LONDE DISEASE (OMIM:211500)
Gene: SLC52A3
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FAZIO-LONDE DISEASE (OMIM:211500)
Gene: SLC52A3
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Scoliosis (HP:0002650)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Dysphagia (HP:0002015)
Associated disease: FAZIO-LONDE DISEASE (OMIM:211500)
Gene: SLC52A3
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Progressive inspiratory stridor (HP:0005951)
Associated disease: FAZIO-LONDE DISEASE (OMIM:211500)
Gene: SLC52A3
Phenotype: Respiratory distress (HP:0002098)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Dyspnea (HP:0002094)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Myopathic facies (HP:0002058)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Gait imbalance (HP:0002141)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Infantile onset (HP:0003593)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: FAZIO-LONDE DISEASE (OMIM:211500)
Gene: SLC52A3
Phenotype: Facial palsy (HP:0010628)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Cranial nerve motor loss (HP:0007097)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Progressive (HP:0003676)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Clumsiness (HP:0002312)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Childhood onset (HP:0011463)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Knee clonus (HP:0011449)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Ankle clonus (HP:0011448)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Hand muscle atrophy (HP:0009130)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: FAZIO-LONDE DISEASE (OMIM:211500)
Gene: SLC52A3
Phenotype: Diaphragmatic weakness (HP:0009113)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Stridor (HP:0010307)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Kyphosis (HP:0002808)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Weak voice (HP:0001621)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Ptosis (HP:0000508)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: SLC52A3
Phenotype: Ptosis (HP:0000508)
Associated disease: FAZIO-LONDE DISEASE (OMIM:211500)
Gene: SLC52A3
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: BROWN-VIALETTO-VAN LAERE SYNDROME 1 (OMIM:211530)
Gene: TUBA3D
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KERATOCONUS 9 (OMIM:617928)
Gene: TUBA3D
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: KERATOCONUS 9 (OMIM:617928)
Gene: TUBA3D
Phenotype: Decreased corneal thickness (HP:0100689)
Associated disease: KERATOCONUS 9 (OMIM:617928)
Gene: TUBA3D
Phenotype: Juvenile onset (HP:0003621)
Associated disease: KERATOCONUS 9 (OMIM:617928)
Gene: TUBA3D
Phenotype: Keratoconus (HP:0000563)
Associated disease: KERATOCONUS 9 (OMIM:617928)
Gene: CYP2U1
Phenotype: Abnormal globus pallidus morphology (HP:0002453)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Dystonia (HP:0001332)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Spastic gait (HP:0002064)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: CYP2U1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE (OMIM:615030)
Gene: CYP2U1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Autosomal recessive spastic paraplegia type 56; SPG56 (ORPHA:320411)
Gene: TOE1
Phenotype: Hypertonia (HP:0001276)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Hypertonia (HP:0001276)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Seizure (HP:0001250)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Ataxia (HP:0001251)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Spasticity (HP:0001257)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Spasticity (HP:0001257)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Micropenis (HP:0000054)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Micropenis (HP:0000054)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Absent speech (HP:0001344)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Myoclonus (HP:0001336)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Myoclonus (HP:0001336)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Aplasia of the uterus (HP:0000151)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Large forehead (HP:0002003)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Abnormal cerebral morphology (HP:0002060)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PCH7; Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome; Pontocerebellar hypoplasia type 7 (ORPHA:284339)
Gene: TOE1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)
Gene: TOE1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 7 (OMIM:614969)