TaoMedAI/RareMedData huggingface dataset:
Gene: SLC18A3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Fatigue (HP:0012378)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Intestinal hypoplasia (HP:0005245)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Dysphonia (HP:0001618)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Fatigable weakness of skeletal muscles (HP:0030197)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Weak cry (HP:0001612)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Low-set ears (HP:0000369)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Micrognathia (HP:0000347)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: SLC18A3
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Pes cavus (HP:0001761)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC (OMIM:617239)
Gene: SLC18A3
Phenotype: Ptosis (HP:0000508)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC18A3
Phenotype: Esotropia (HP:0000565)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC19A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Seizure (HP:0001250)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Increased circulating lactate dehydrogenase concentration (HP:0025435)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Food allergy (HP:0500093)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Lip fissure (HP:0031250)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Folate-responsive megaloblastic anemia (HP:0004851)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Hypersegmentation of neutrophil nuclei (HP:0004821)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Episodic hemolytic anemia (HP:0004802)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Atopic dermatitis (HP:0001047)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Aphthous ulcer (HP:0032154)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Megaloblastic bone marrow (HP:0001980)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Schistocytosis (HP:0001981)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Carious teeth (HP:0000670)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Abnormal blood folate concentration (HP:0040087)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Erythroid dysplasia (HP:0031688)
Associated disease: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE (OMIM:601775)
Gene: SLC19A1
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC19A1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE (OMIM:620603)
Gene: SLC20A2
Phenotype: Cerebellar dentate nucleus calcification (HP:0002461)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Limb dysmetria (HP:0002406)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Seizure (HP:0001250)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Seizure (HP:0001250)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Cerebellar calcifications (HP:0007352)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Calcification of the small brain vessels (HP:0002504)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Slurred speech (HP:0001350)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Dystonia (HP:0001332)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Dystonia (HP:0001332)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Tremor (HP:0001337)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Tremor (HP:0001337)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Bradykinesia (HP:0002067)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Rigidity (HP:0002063)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Rigidity (HP:0002063)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Chorea (HP:0002072)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Postural instability (HP:0002172)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Adult onset (HP:0003581)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Progressive (HP:0003676)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Memory impairment (HP:0002354)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Memory impairment (HP:0002354)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Vertigo (HP:0002321)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Headache (HP:0002315)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Bilateral basal ganglia lesions (HP:0007146)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Abnormal circulating metabolite concentration (HP:0032180)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Clumsiness (HP:0002312)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Athetosis (HP:0002305)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Diminished ability to concentrate (HP:0031987)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Impotence (HP:0000802)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Abnormal circulating calcium concentration (HP:0004363)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Micrographia (HP:0031908)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Personality changes (HP:0000751)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Anxiety (HP:0000739)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Depression (HP:0000716)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Dementia (HP:0000726)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Psychosis (HP:0000709)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Psychosis (HP:0000709)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Childhood onset (HP:0011463)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC20A2
Phenotype: Unusual CNS infection (HP:0011450)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Hypertension (HP:0000822)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: Bilateral striopallidodentate calcinosis; PFBC; Primary familial brain calcification; Idiopathic basal ganglia calcification; Cerebrovascular ferrocalcinosis; BSPDC (ORPHA:1980)
Gene: SLC20A2
Phenotype: Mask-like facies (HP:0000298)
Associated disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 1 (OMIM:213600)
Gene: SLC25A1
Phenotype: Elevated CSF L-2-hydroxyglutaric acid concentration (HP:6000509)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Poor head control (HP:0002421)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Encephalopathy (HP:0001298)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Motor delay (HP:0001270)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC (OMIM:618197)
Gene: SLC25A1
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Areflexia (HP:0001284)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Seizure (HP:0001250)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Seizure (HP:0001250)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA (OMIM:615182)
Gene: SLC25A1
Phenotype: Ataxia (HP:0001251)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC25A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)