TaoMedAI/RareMedData huggingface dataset:
Gene: GUCY2D
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Foveal photoreceptor outer segment loss on macular OCT (HP:0030615)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Hyperautofluorescent macular lesion (HP:0030631)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Drusen (HP:0011510)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Hyperthreoninuria (HP:0003296)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Growth delay (HP:0001510)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Slow decrease in visual acuity (HP:0007924)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Absent retinal pigment epithelium (HP:0007980)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Cataract (HP:0000518)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Visual impairment (HP:0000505)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1 (OMIM:215500)
Gene: GUCY2D
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Keratoconus (HP:0000563)
Associated disease: LEBER CONGENITAL AMAUROSIS 1 (OMIM:204000)
Gene: GUCY2D
Phenotype: Visual loss (HP:0000572)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: CHOROIDAL DYSTROPHY, CENTRAL AREOLAR, 1 (OMIM:215500)
Gene: GUCY2D
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: CACD; Areolar atrophy of the macula; Central areolar choroidal sclerosis; Central areolar choroidal dystrophy (ORPHA:75377)
Gene: GUCY2D
Phenotype: Tritanomaly (HP:0000552)
Associated disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE1I (OMIM:618555)
Gene: GUCY2D
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 6 (OMIM:601777)
Gene: GUCY2D
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: GUCY2D
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GUCY2D
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GUCY2D
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: H1-4
Phenotype: High anterior hairline (HP:0009890)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Nevus (HP:0003764)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Hypertonia (HP:0001276)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Congenital onset (HP:0003577)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Amblyopia (HP:0000646)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Anxiety (HP:0000739)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Full cheeks (HP:0000293)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Redundant skin (HP:0001582)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Camptodactyly (HP:0012385)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Astigmatism (HP:0000483)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Strabismus (HP:0000486)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Chronic constipation (HP:0012450)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H1-4
Phenotype: Telecanthus (HP:0000506)
Associated disease: RAHMAN SYNDROME (OMIM:617537)
Gene: H3-3A
Phenotype: Tapered finger (HP:0001182)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Seizure (HP:0001250)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Spasticity (HP:0001257)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Low-set nipples (HP:0002562)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Open mouth (HP:0000194)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Narrow mouth (HP:0000160)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Wide mouth (HP:0000154)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Deep philtrum (HP:0002002)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Frontal bossing (HP:0002007)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Developmental regression (HP:0002376)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Nystagmus (HP:0000639)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Broad thumb (HP:0011304)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Epicanthus (HP:0000286)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Broad philtrum (HP:0000289)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Microcephaly (HP:0000252)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Low-set ears (HP:0000369)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Narrow forehead (HP:0000341)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Long philtrum (HP:0000343)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: High forehead (HP:0000348)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Micrognathia (HP:0000347)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Strabismus (HP:0000486)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Chronic constipation (HP:0012450)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3A
Phenotype: Dilation of Virchow-Robin spaces (HP:0012520)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Gene: H3-3B
Phenotype: Tapered finger (HP:0001182)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Scoliosis (HP:0002650)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Frontal bossing (HP:0002007)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Midface retrusion (HP:0011800)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Infantile onset (HP:0003593)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Thoracic hemivertebrae (HP:0008467)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Low hanging columella (HP:0009765)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Broad thumb (HP:0011304)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Short stature (HP:0004322)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Sparse hair (HP:0008070)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Microcephaly (HP:0000252)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Brachycephaly (HP:0000248)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Overgrowth (HP:0001548)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Genu valgum (HP:0002857)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Laryngomalacia (HP:0001601)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Long philtrum (HP:0000343)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: High forehead (HP:0000348)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Gene: H3-3B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)