TaoMedAI/RareMedData huggingface dataset:
Gene: KCTD7
Phenotype: Absent speech (HP:0001344)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Myoclonus (HP:0001336)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Infantile onset (HP:0003593)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Developmental regression (HP:0002376)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Developmental regression (HP:0002376)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Progressive (HP:0003676)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Dementia (HP:0000726)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material (HP:0003208)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Limb myoclonus (HP:0045084)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Microcephaly (HP:0000252)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Microcephaly (HP:0000252)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Myoclonic status epilepticus (HP:0032667)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: KCTD7
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Focal EEG discharges with secondary generalization (HP:0011188)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Chin myoclonus (HP:0012462)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Progressive myoclonic epilepsy type 3; PME type 3; EPM3; Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency (ORPHA:263516)
Gene: KCTD7
Phenotype: Visual loss (HP:0000572)
Associated disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH OR WITHOUT INTRACELLULAR INCLUSIONS (OMIM:611726)
Gene: METTL27
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Proteinuria (HP:0000093)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Renal duplication (HP:0000075)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Nystagmus-induced head nodding (HP:0001361)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Functional abnormality of male internal genitalia (HP:0000025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Tremor (HP:0001337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Dysmetria (HP:0001310)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Overriding aorta (HP:0002623)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Macroglossia (HP:0000158)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Wide mouth (HP:0000154)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Malabsorption (HP:0002024)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Phonophobia (HP:0002183)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Colonic diverticula (HP:0002253)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Insomnia (HP:0100785)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal diencephalon morphology (HP:0010662)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Developmental regression (HP:0002376)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Down-sloping shoulders (HP:0200021)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Open bite (HP:0010807)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Death in early adulthood (HP:0100613)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Hyperacusis (HP:0010780)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Peripheral pulmonary artery stenosis (HP:0004969)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal gastric mucosa morphology (HP:0004295)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal tubulointerstitial morphology (HP:0001969)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Blue irides (HP:0000635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Microdontia (HP:0000691)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Carious teeth (HP:0000670)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Hypodontia (HP:0000668)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Short stature (HP:0004322)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormal endocardium morphology (HP:0004306)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Supravalvular aortic stenosis (HP:0004381)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Peptic ulcer (HP:0004398)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Overfriendliness (HP:0100025)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: METTL27
Phenotype: Anxiety (HP:0000739)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)