TaoMedAI/RareMedData huggingface dataset:
Gene: FBLN5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Gene: FBLN5
Phenotype: Abnormal systemic arterial morphology (HP:0011004)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Low-set ears (HP:0000369)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Pyelonephritis (HP:0012330)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Broad forehead (HP:0000337)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Gene: FBLN5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: CUTIS LAXA, AUTOSOMAL DOMINANT 2 (OMIM:614434)
Gene: FBLN5
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Triangular face (HP:0000325)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Dilatation of the ventricular cavity (HP:0006698)
Associated disease: Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Gene: FBLN5
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Pes planus (HP:0001763)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Protruding ear (HP:0000411)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Gene: FBLN5
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: FBLN5
Phenotype: Talipes calcaneovalgus (HP:0001884)
Associated disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Gene: CIB2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Motor delay (HP:0001270)
Associated disease: USHER SYNDROME, TYPE IJ (OMIM:614869)
Gene: CIB2
Phenotype: Ataxia (HP:0001251)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 48 (OMIM:609439)
Gene: CIB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE IJ (OMIM:614869)
Gene: CIB2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Congenital onset (HP:0003577)
Associated disease: USHER SYNDROME, TYPE IJ (OMIM:614869)
Gene: CIB2
Phenotype: Schizophrenia (HP:0100753)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: High hypermetropia (HP:0008499)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Hallucinations (HP:0000738)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Anxiety (HP:0000739)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Depression (HP:0000716)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Profound sensorineural hearing impairment (HP:0011476)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 48 (OMIM:609439)
Gene: CIB2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: USHER SYNDROME, TYPE IJ (OMIM:614869)
Gene: CIB2
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 48 (OMIM:609439)
Gene: CIB2
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Cataract (HP:0000518)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE IJ (OMIM:614869)
Gene: CIB2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Scotoma (HP:0000575)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Visual loss (HP:0000572)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: CIB2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CIB1
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CIB1
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 (OMIM:618267)
Gene: CIB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 (OMIM:618267)
Gene: CIB1
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CIB1
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CIB1
Phenotype: Palmar pits (HP:0010610)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 (OMIM:618267)
Gene: CIB1
Phenotype: Seborrheic dermatitis (HP:0001051)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CIB1
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CIB1
Phenotype: Epidermal acanthosis (HP:0025092)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 (OMIM:618267)
Gene: CIB1
Phenotype: Skin plaque (HP:0200035)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CIB1
Phenotype: Papule (HP:0200034)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CIB1
Phenotype: Pustule (HP:0200039)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CIB1
Phenotype: Verrucae (HP:0200043)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 (OMIM:618267)
Gene: CIB1
Phenotype: Verrucae (HP:0200043)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CIB1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 (OMIM:618267)
Gene: CIB1
Phenotype: Childhood onset (HP:0011463)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 (OMIM:618267)
Gene: CIB1
Phenotype: Young adult onset (HP:0011462)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 (OMIM:618267)
Gene: CIB1
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: CIB1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 3 (OMIM:618267)
Gene: CIB1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Inherited epidermodysplasia verruciformis; Lutz-Lewandowsky epidermodysplasia verruciformis; Lewandowsky-Lutz syndrome (ORPHA:302)
Gene: DEAF1
Phenotype: Broad palm (HP:0001169)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Abnormal temper tantrums (HP:0025160)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Iris nodule (HP:0034819)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Motor delay (HP:0001270)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Seizure (HP:0001250)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Seizure (HP:0001250)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Waddling gait (HP:0002515)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Polyembolokoilamania (HP:0032508)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Onychotillomania (HP:0032509)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Absent speech (HP:0001344)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Open mouth (HP:0000194)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Floppy infant (HP:0008947)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Constipation (HP:0002019)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Constipation (HP:0002019)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Sleep apnea (HP:0010535)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Impulsivity (HP:0100710)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Fine hair (HP:0002213)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Large face (HP:0100729)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)