TaoMedAI/RareMedData huggingface dataset:
Gene: KDM6A
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Lagophthalmos (HP:0030001)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Growth delay (HP:0001510)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Obesity (HP:0001513)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Obesity (HP:0001513)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Cupped ear (HP:0000378)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Cupped ear (HP:0000378)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Overfolded helix (HP:0000396)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Anoperineal fistula (HP:0005218)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Weak cry (HP:0001612)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Low-set ears (HP:0000369)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Low-set ears (HP:0000369)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: High forehead (HP:0000348)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Micrognathia (HP:0000347)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Micrognathia (HP:0000347)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Subpleural honeycombing (HP:0031631)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Decreased proportion of CD4-positive memory T cells (HP:0410386)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Macrotia (HP:0000400)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Macrotia (HP:0000400)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Macrotia (HP:0000400)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Strabismus (HP:0000486)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Strabismus (HP:0000486)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Strabismus (HP:0000486)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Microcornea (HP:0000482)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Choanal atresia (HP:0000453)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Wide nose (HP:0000445)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Single ventricle (HP:0001750)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Protruding ear (HP:0000411)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Protruding ear (HP:0000411)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Protruding ear (HP:0000411)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Phimosis (HP:0001741)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Splenomegaly (HP:0001744)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Pilomatrixoma (HP:0030434)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Long eyelashes (HP:0000527)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Telecanthus (HP:0000506)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Ptosis (HP:0000508)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Ptosis (HP:0000508)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Bilateral renal hypoplasia (HP:0012584)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Nasolacrimal duct obstruction (HP:0000579)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Prominent eyelashes (HP:0011231)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Coloboma (HP:0000589)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: VARS1
Phenotype: Poor head control (HP:0002421)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Volvulus (HP:0002580)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Myopic astigmatism (HP:0500041)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Bilateral conductive hearing impairment (HP:0008513)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Natal tooth (HP:0000695)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Short nose (HP:0003196)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Small anterior fontanelle (HP:0000237)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Weak cry (HP:0001612)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Breech presentation (HP:0001623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Premature birth (HP:0001622)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VARS1
Phenotype: Myopia (HP:0000545)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY (OMIM:617802)
Gene: VCL
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CARDIOMYOPATHY, DILATED, 1W (OMIM:611407)
Gene: VCL
Phenotype: Increased left ventricular end-diastolic volume (HP:0033755)
Associated disease: CARDIOMYOPATHY, DILATED, 1W (OMIM:611407)
Gene: VCL
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Middle age onset (HP:0003596)
Associated disease: CARDIOMYOPATHY, DILATED, 1W (OMIM:611407)
Gene: VCL
Phenotype: Late onset (HP:0003584)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Left ventricular outflow tract obstruction (HP:0032092)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: CARDIOMYOPATHY, DILATED, 1W (OMIM:611407)
Gene: VCL
Phenotype: Apical hypertrophic cardiomyopathy (HP:0031992)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Young adult onset (HP:0011462)
Associated disease: CARDIOMYOPATHY, DILATED, 1W (OMIM:611407)
Gene: VCL
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: Hyperdynamic left ventricular ejection fraction (HP:0034313)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: Myofiber disarray (HP:0031318)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Cardiomyocyte hypertrophy (HP:0031319)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 1W (OMIM:611407)
Gene: VCL
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: VCL
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Endocardial fibrosis (HP:0006685)
Associated disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 (OMIM:613255)
Gene: VCL
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)