TaoMedAI/RareMedData huggingface dataset:
Gene: KMT2D
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Recurrent aspiration pneumonia (HP:0002100)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Infantile onset (HP:0003593)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Congenital onset (HP:0003577)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Large earlobe (HP:0009748)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Nail dystrophy (HP:0008404)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Type II pneumocyte hyperplasia (HP:0033328)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Decreased circulating IgG2 concentration (HP:0008348)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Facial palsy (HP:0010628)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Severe short stature (HP:0003510)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hirsutism (HP:0001007)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Bilateral conductive hearing impairment (HP:0008513)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Small hand (HP:0200055)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Decreased circulating total IgG concentration (HP:0032132)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Cholesteatoma (HP:0009797)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Branchial cyst (HP:0009796)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Dimple chin (HP:0010751)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Low hanging columella (HP:0009765)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Vertebral clefting (HP:0008428)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Neonatal onset (HP:0003623)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Juvenile onset (HP:0003621)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Lobar holoprosencephaly (HP:0006870)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2D
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Nystagmus (HP:0000639)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Amblyopia (HP:0000646)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Iris coloboma (HP:0000612)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Hypotelorism (HP:0000601)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Aplasia of the semicircular canal (HP:0011381)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Broad hallux (HP:0010055)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Oligodontia (HP:0000677)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Natal tooth (HP:0000695)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Microdontia (HP:0000691)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Microdontia (HP:0000691)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Peters anomaly (HP:0000659)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Carious teeth (HP:0000670)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Hypodontia (HP:0000668)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Alobar holoprosencephaly (HP:0006988)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Short stature (HP:0004322)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Short stature (HP:0004322)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Short stature (HP:0004322)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Third trimester onset (HP:0034197)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Late first trimester onset (HP:0034199)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Second trimester onset (HP:0034198)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Second trimester onset (HP:0034198)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Anorectal anomaly (HP:0012732)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Childhood onset (HP:0011463)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Fetal onset (HP:0011461)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Short nose (HP:0003196)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Preauricular pit (HP:0004467)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2D
Phenotype: Preauricular pit (HP:0004467)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Proboscis (HP:0012806)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Hyperinsulinemic hypoglycemia (HP:0000825)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Short 5th finger (HP:0009237)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Short 5th finger (HP:0009237)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Bilateral choanal atresia (HP:0004502)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Lip pit (HP:0100267)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Premature thelarche (HP:0010314)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Premature thelarche (HP:0010314)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Branchial sinus (HP:0100272)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Scimitar anomaly (HP:0011626)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Sacral dimple (HP:0000960)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Short middle phalanx of finger (HP:0005819)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Sparse hair (HP:0008070)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Epicanthus (HP:0000286)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Epicanthus (HP:0000286)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Retrognathia (HP:0000278)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Broad philtrum (HP:0000289)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Narrow face (HP:0000275)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Clinodactyly (HP:0030084)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Microcephaly (HP:0000252)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Microcephaly (HP:0000252)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: High palate (HP:0000218)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: High palate (HP:0000218)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Lagophthalmos (HP:0030001)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Growth delay (HP:0001510)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Obesity (HP:0001513)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Obesity (HP:0001513)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Cupped ear (HP:0000378)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Overfolded helix (HP:0000396)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Overfolded helix (HP:0000396)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Anoperineal fistula (HP:0005218)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Weak cry (HP:0001612)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Hearing impairment (HP:0000365)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Low-set ears (HP:0000369)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Low-set ears (HP:0000369)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: KMT2D
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Kabuki make-up syndrome; Niikawa-Kuroki syndrome; Kabuki syndrome (ORPHA:2322)
Gene: KMT2D
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: High forehead (HP:0000348)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: High forehead (HP:0000348)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Micrognathia (HP:0000347)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Micrognathia (HP:0000347)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)
Gene: KMT2D
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hypertelorism (HP:0000316)
Associated disease: KABUKI SYNDROME 1 (OMIM:147920)
Gene: KMT2D
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME (OMIM:620186)