TaoMedAI/RareMedData huggingface dataset:
Gene: ADNP
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Genu valgum (HP:0002857)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Failure to thrive (HP:0001508)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Aspiration (HP:0002835)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Obesity (HP:0001513)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Cupped ear (HP:0000378)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Low-set ears (HP:0000369)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Low-set ears (HP:0000369)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Long philtrum (HP:0000343)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ADNP
Phenotype: Tonic seizure (HP:0032792)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Heart murmur (HP:0030148)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Short chin (HP:0000331)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ADNP
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Typical absence seizure (HP:0011147)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Astigmatism (HP:0000483)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Astigmatism (HP:0000483)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Strabismus (HP:0000486)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Strabismus (HP:0000486)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Chronic constipation (HP:0012450)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Abnormal brain morphology (HP:0012443)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Pes planus (HP:0001763)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Abnormal toe morphology (HP:0001780)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Meconium stained amniotic fluid (HP:0012420)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Protruding ear (HP:0000411)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Sandal gap (HP:0001852)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Sandal gap (HP:0001852)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: ADNP
Phenotype: Ptosis (HP:0000508)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Visual impairment (HP:0000505)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Exotropia (HP:0000577)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: ADNP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Helsmoortel-Van Der Aa Syndrome; ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS (ORPHA:404448)
Gene: ADNP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Gene: LARS2
Phenotype: Motor delay (HP:0001270)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Seizure (HP:0001250)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Overriding aorta (HP:0002623)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Decreased liver function (HP:0001410)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Gait ataxia (HP:0002066)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Increased mean corpuscular volume (HP:0005518)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Anemia (HP:0001903)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Antenatal onset (HP:0030674)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Hematuria (HP:0000790)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Hypertension (HP:0000822)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Osteoporosis (HP:0000939)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Ascites (HP:0001541)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Obesity (HP:0001513)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Fetal pericardial effusion (HP:0025671)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Tarlov cyst (HP:0025643)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Cubitus valgus (HP:0002967)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Strabismus (HP:0000486)
Associated disease: PERRAULT SYNDROME 4 (OMIM:615300)
Gene: LARS2
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: LARS2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA (OMIM:617021)
Gene: PIP5K1C
Phenotype: Neonatal death (HP:0003811)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 3 (OMIM:611369)
Gene: PIP5K1C
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 3 (OMIM:611369)
Gene: PIP5K1C
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 3 (OMIM:611369)
Gene: PIP5K1C
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 3 (OMIM:611369)
Gene: PIP5K1C
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 3 (OMIM:611369)
Gene: PIP5K1C
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 3 (OMIM:611369)
Gene: NCAPH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617985)
Gene: NCAPH
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617985)
Gene: NCAPH
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617985)
Gene: NCAPH
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617985)
Gene: NCAPH
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617985)
Gene: NCAPH
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 23, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617985)
Gene: ATP13A2
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Anarthria (HP:0002425)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Anarthria (HP:0002425)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Hypertonia (HP:0001276)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Hypertonia (HP:0001276)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Confusion (HP:0001289)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Lethargy (HP:0001254)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Seizure (HP:0001250)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Ataxia (HP:0001251)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Dysarthria (HP:0001260)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Spasticity (HP:0001257)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Falls (HP:0002527)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Lingual dystonia (HP:0031008)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: PARK9; Kufor-Rakeb syndrome (ORPHA:306674)
Gene: ATP13A2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)
Gene: ATP13A2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Dystonia (HP:0001332)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Dystonia (HP:0001332)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Dystonia (HP:0001332)
Associated disease: KUFOR-RAKEB SYNDROME (OMIM:606693)
Gene: ATP13A2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Neuronal ceroid lipofuscinosis type 12; Juvenile parkinsonism-neuronal ceroid lipofuscinosis; ATP13A2-related juvenile neuronal ceroid lipofuscinosis; CLN12 disease (ORPHA:314632)
Gene: ATP13A2
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: SPG78; Autosomal recessive spastic paraplegia type 78 (ORPHA:513436)
Gene: ATP13A2
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE (OMIM:617225)