TaoMedAI/RareMedData huggingface dataset:
Gene: KDM6A
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Absent pubertal growth spurt (HP:0031087)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Areolar fullness (HP:0032315)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Renal duplication (HP:0000075)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Joint dislocation (HP:0001373)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Micropenis (HP:0000054)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hypospadias (HP:0000047)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Scoliosis (HP:0002650)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Scoliosis (HP:0002650)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Bifid uvula (HP:0000193)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Lower lip pit (HP:0000196)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Cleft palate (HP:0000175)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Cleft palate (HP:0000175)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Cleft palate (HP:0000175)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Persistence of primary teeth (HP:0006335)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Cleft lip (HP:0410030)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Floppy infant (HP:0008947)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: High, narrow palate (HP:0002705)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Renal dysplasia (HP:0000110)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Anal stenosis (HP:0002025)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Anal atresia (HP:0002023)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Malabsorption (HP:0002024)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Short columella (HP:0002000)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Short columella (HP:0002000)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Infantile onset (HP:0003593)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Congenital onset (HP:0003577)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Large earlobe (HP:0009748)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Type II pneumocyte hyperplasia (HP:0033328)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Decreased circulating IgG2 concentration (HP:0008348)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Severe short stature (HP:0003510)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hirsutism (HP:0001007)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Hirsutism (HP:0001007)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Small hand (HP:0200055)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Decreased circulating total IgG concentration (HP:0032132)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Dimple chin (HP:0010751)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Vertebral clefting (HP:0008428)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Nystagmus (HP:0000639)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hypotelorism (HP:0000601)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Aplasia of the semicircular canal (HP:0011381)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Oligodontia (HP:0000677)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Natal tooth (HP:0000695)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Microdontia (HP:0000691)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Microdontia (HP:0000691)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Peters anomaly (HP:0000659)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hypodontia (HP:0000668)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hypodontia (HP:0000668)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Alobar holoprosencephaly (HP:0006988)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Decreased body weight (HP:0004325)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Short stature (HP:0004322)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Short stature (HP:0004322)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Short stature (HP:0004322)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Second trimester onset (HP:0034198)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Childhood onset (HP:0011463)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Fetal onset (HP:0011461)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Short nose (HP:0003196)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Preauricular pit (HP:0004467)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Proboscis (HP:0012806)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Short 5th finger (HP:0009237)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Short 5th finger (HP:0009237)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Lip pit (HP:0100267)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Premature thelarche (HP:0010314)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Premature thelarche (HP:0010314)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Branchial sinus (HP:0100272)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Scimitar anomaly (HP:0011626)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Sacral dimple (HP:0000960)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Epicanthus (HP:0000286)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Epicanthus (HP:0000286)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Retrognathia (HP:0000278)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: Microcephaly (HP:0000252)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)
Gene: KDM6A
Phenotype: Microcephaly (HP:0000252)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: High palate (HP:0000218)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KDM6A
Phenotype: High palate (HP:0000218)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KDM6A
Phenotype: High palate (HP:0000218)
Associated disease: KABUKI SYNDROME 2 (OMIM:300867)