TaoMedAI/RareMedData huggingface dataset:
Gene: DEAF1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Vocal cord polyp (HP:0032041)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Developmental regression (HP:0002376)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Developmental regression (HP:0002376)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Abnormality of pain sensation (HP:0010832)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Hyperacusis (HP:0010780)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Clumsiness (HP:0002312)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Drooling (HP:0002307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Drooling (HP:0002307)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Short REM sleep (HP:5200360)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Abnormal pineal melatonin secretion (HP:0012689)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Synophrys (HP:0000664)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Short stature (HP:0004322)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Abnormal tracheobronchial morphology (HP:0005607)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Anxiety (HP:0000739)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Autism (HP:0000717)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Autism (HP:0000717)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Emotional lability (HP:0000712)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Emotional lability (HP:0000712)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Emotional lability (HP:0000712)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Agitation (HP:0000713)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Gene: DEAF1
Phenotype: Agitation (HP:0000713)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: 2-3 toe cutaneous syndactyly (HP:0005709)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Short nose (HP:0003196)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Epicanthus (HP:0000286)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: High palate (HP:0000218)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Gene: DEAF1
Phenotype: Obesity (HP:0001513)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Flat face (HP:0012368)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Widow's peak (HP:0000349)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Square face (HP:0000321)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Strabismus (HP:0000486)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Microcornea (HP:0000482)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Pes planus (HP:0001763)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Gene: DEAF1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: DEAF1
Phenotype: Myopia (HP:0000545)
Associated disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Gene: KAT5
Phenotype: Frequent temper tantrums (HP:0025161)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Hypospadias (HP:0000047)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Focal polymicrogyria (HP:0032471)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Head-banging (HP:0012168)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Wide mouth (HP:0000154)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Unilateral cleft lip (HP:0100333)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Flat face (HP:0012368)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Dysplastic pulmonary valve (HP:0005164)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: High myopia (HP:0011003)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Low-set ears (HP:0000369)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Round face (HP:0000311)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Epiblepharon (HP:0011225)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: KAT5
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Gene: HYOU1
Phenotype: High anterior hairline (HP:0009890)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Sepsis (HP:0100806)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Slender finger (HP:0001238)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine (HP:0410300)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Arteritis (HP:0012089)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Malabsorption (HP:0002024)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Short stature (HP:0004322)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Acne inversa (HP:0040154)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)
Gene: HYOU1
Phenotype: Narrow face (HP:0000275)
Associated disease: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA (OMIM:233600)