TaoMedAI/RareMedData huggingface dataset:
Gene: RNASEH2C
Phenotype: Nystagmus (HP:0000639)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Nystagmus (HP:0000639)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
Phenotype: Short stature (HP:0004322)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Irritability (HP:0000737)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Dry skin (HP:0000958)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Degeneration of the striatum (HP:0040140)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
Phenotype: Microcephaly (HP:0000252)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Enchondroma (HP:0030038)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
Phenotype: Low-set ears (HP:0000369)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Panniculitis (HP:0012490)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Delayed myelination (HP:0012448)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: RNASEH2C
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Ptosis (HP:0000508)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Glaucoma (HP:0000501)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Increased circulating interferon-gamma concentration (HP:0030356)
Associated disease: Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid; Encephalopathy with basal ganglia calcification; Aicardi-Goutières syndrome (ORPHA:51)
Gene: RNASEH2C
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: AICARDI-GOUTIERES SYNDROME 3 (OMIM:610329)
Gene: BLTP1
Phenotype: Hand clenching (HP:0001188)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Seizure (HP:0001250)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Small scrotum (HP:0000046)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Micropenis (HP:0000054)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Absent speech (HP:0001344)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Congenital onset (HP:0003577)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Kinked brainstem (HP:0012793)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Short nose (HP:0003196)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Edema (HP:0000969)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: High palate (HP:0000218)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Strabismus (HP:0000486)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Webbed neck (HP:0000465)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Cataract (HP:0000518)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: BLTP1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: ALKURAYA-KUCINSKAS SYNDROME (OMIM:617822)
Gene: GTF2IRD2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
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: GTF2IRD2
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Proteinuria (HP:0000093)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Renal duplication (HP:0000075)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Bladder diverticulum (HP:0000015)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Nystagmus-induced head nodding (HP:0001361)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
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: GTF2IRD2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Abnormal dermatoglyphics (HP:0007477)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Tremor (HP:0001337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Dysmetria (HP:0001310)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Overriding aorta (HP:0002623)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Macroglossia (HP:0000158)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Wide mouth (HP:0000154)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Constipation (HP:0002019)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
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: GTF2IRD2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: GTF2IRD2
Phenotype: Arterial stenosis (HP:0100545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)