TaoMedAI/RareMedData huggingface dataset:
Gene: GNAT1
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G (OMIM:616389)
Gene: GNAT1
Phenotype: Visual impairment (HP:0000505)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G (OMIM:616389)
Gene: GNAT1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1G (OMIM:616389)
Gene: GNAT1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT1
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: GNAT2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ACHROMATOPSIA 4 (OMIM:613856)
Gene: GNAT2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Nystagmus (HP:0000639)
Associated disease: ACHROMATOPSIA 4 (OMIM:613856)
Gene: GNAT2
Phenotype: Photophobia (HP:0000613)
Associated disease: ACHROMATOPSIA 4 (OMIM:613856)
Gene: GNAT2
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: GNAT2
Phenotype: Photophobia (HP:0000613)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Central scotoma (HP:0000603)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Undetectable light-adapted electroretinogram (HP:0030465)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Inner retinal layer loss on macular OCT (HP:0030620)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Color vision test abnormality (HP:0030584)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Achromatopsia (HP:0011516)
Associated disease: ACHROMATOPSIA 4 (OMIM:613856)
Gene: GNAT2
Phenotype: Absent foveal reflex (HP:0030825)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: GNAT2
Phenotype: Eccentric visual fixation (HP:0025549)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Abnormal pupillary light reflex (HP:0007695)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Monochromacy (HP:0007803)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: GNAT2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: GNAT2
Phenotype: Visual impairment (HP:0000505)
Associated disease: ACHROMATOPSIA 4 (OMIM:613856)
Gene: GNAT2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone dystrophy; Progressive cone dystrophy (ORPHA:1871)
Gene: GNAT2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNAT2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GNAT2
Phenotype: Myopia (HP:0000545)
Associated disease: Rod monochromatism; ACHM; Complete or incomplete color blindness; Achromatopsia; Total color blindness; Pingelapese blindness; Rod monochromacy (ORPHA:49382)
Gene: GNB1
Phenotype: Hand clenching (HP:0001188)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Tapered finger (HP:0001182)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Limb dystonia (HP:0002451)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Seizure (HP:0001250)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Polygenic inheritance (HP:0010982)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: GNB1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Inability to walk (HP:0002540)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Inability to walk (HP:0002540)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Ureteropelvic junction obstruction (HP:0000074)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: EEG with temporal focal spikes (HP:0012018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Dystonia (HP:0001332)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Myoclonus (HP:0001336)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Cleft palate (HP:0000175)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: LEUKEMIA, ACUTE LYMPHOBLASTIC (OMIM:613065)
Gene: GNB1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Gene: GNB1
Phenotype: Dysphagia (HP:0002015)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Asthma (HP:0002099)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Developmental regression (HP:0002376)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Hemiplegia (HP:0002301)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Narrow palm (HP:0004283)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Abnormality of ocular smooth pursuit (HP:0000617)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Severe receptive language delay (HP:0011352)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Phonic tics (HP:0100035)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Motor tics (HP:0100034)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Autism (HP:0000717)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Stridor (HP:0010307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Impaired smooth pursuit (HP:0007772)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: High palate (HP:0000218)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: High palate (HP:0000218)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Gene: GNB1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Growth delay (HP:0001510)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Growth delay (HP:0001510)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Tonic seizure (HP:0032792)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: Short philtrum (HP:0000322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)
Gene: GNB1
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome (ORPHA:488613)
Gene: GNB1
Phenotype: EEG with generalized epileptiform discharges (HP:0011198)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42 (OMIM:616973)