TaoMedAI/RareMedData huggingface dataset:
Gene: OVOL2
Phenotype: Increased corneal curvature (HP:0100692)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Amblyopia (HP:0000646)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Photophobia (HP:0000613)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Photophobia (HP:0000613)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Blurred vision (HP:0000622)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Abnormal corneal endothelium morphology (HP:0011488)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Reduced number of corneal endothelial cells (HP:0011491)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Abnormal Descemet membrane morphology (HP:0011490)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Polymorphous posterior corneal dystrophy (HP:0007915)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Glaucoma (HP:0000501)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: OVOL2
Phenotype: Band keratopathy (HP:0000585)
Associated disease: CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 1 (OMIM:122000)
Gene: OVOL2
Phenotype: Esotropia (HP:0000565)
Associated disease: Posterior polymorphous corneal dystrophy; PPCD; Schlichting dystrophy; Posterior polymorphous dystrophy (ORPHA:98973)
Gene: PRUNE1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Seizure (HP:0001250)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Inability to walk (HP:0002540)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Absent speech (HP:0001344)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Narrow palate (HP:0000189)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Clonus (HP:0002169)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Clonus (HP:0002169)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Progressive (HP:0003676)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Joint contracture (HP:0034392)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Microcephaly (HP:0000252)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Macrotia (HP:0000400)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Retinopathy (HP:0000488)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Protruding ear (HP:0000411)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Cataract (HP:0000518)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: PRUNE1
Phenotype: Cataract (HP:0000518)
Associated disease: PRUNE1-related neurological syndrome (ORPHA:544469)
Gene: PRUNE1
Phenotype: Proptosis (HP:0000520)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES (OMIM:617481)
Gene: ZNF462
Phenotype: Horizontal crus of helix (HP:0009897)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Microtia (HP:0008551)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Motor delay (HP:0001270)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Hypotonia (HP:0001252)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Infantile onset (HP:0003593)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Tube feeding (HP:0033454)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Autistic behavior (HP:0000729)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Short nose (HP:0003196)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Short nose (HP:0003196)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Preauricular pit (HP:0004467)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Abnormality of limbs (HP:0040064)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Epicanthus (HP:0000286)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Epicanthus (HP:0000286)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Broad philtrum (HP:0000289)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Dextrotransposition of the great arteries (HP:0031348)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Colpocephaly (HP:0030048)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Cupped ear (HP:0000378)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Overfolded helix (HP:0000396)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Hearing impairment (HP:0000365)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Low-set ears (HP:0000369)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Low-set ears (HP:0000369)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Anteverted nares (HP:0000463)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Protruding ear (HP:0000411)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Ptosis (HP:0000508)
Associated disease: Weiss-Kruszka Syndrome; Metopic ridging-ptosis-facial dysmorphism syndrome (ORPHA:502430)
Gene: ZNF462
Phenotype: Ptosis (HP:0000508)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: ZNF462
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: WEISS-KRUSZKA SYNDROME (OMIM:618619)
Gene: KMT2C
Phenotype: Tapered finger (HP:0001182)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Language impairment (HP:0002463)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Motor delay (HP:0001270)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Seizure (HP:0001250)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Seizure (HP:0001250)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Hypotonia (HP:0001252)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Hypotonia (HP:0001252)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)