TaoMedAI/RareMedData huggingface dataset:
Gene: XRCC2
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal preputium morphology (HP:0100587)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Absent testis (HP:0010469)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 17 (OMIM:619146)
Gene: XRCC2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 17 (OMIM:619146)
Gene: XRCC2
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: PREMATURE OVARIAN FAILURE 17 (OMIM:619146)
Gene: XRCC2
Phenotype: Absent scaphoid (HP:0011835)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Congenital onset (HP:0003577)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Clubbing of toes (HP:0100760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: PREMATURE OVARIAN FAILURE 17 (OMIM:619146)
Gene: XRCC2
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: XRCC2
Phenotype: Obstructive azoospermia (HP:0011962)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: XRCC2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Absent thumb (HP:0009777)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Pyridoxine-responsive sideroblastic anemia (HP:0005522)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Cranial nerve paralysis (HP:0006824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Anemia (HP:0001903)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Aplasia of the 1st metacarpal (HP:0010035)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Abnormal nervous system morphology (HP:0012639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Short stature (HP:0004322)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Unilateral facial palsy (HP:0012799)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Young adult onset (HP:0011462)
Associated disease: PREMATURE OVARIAN FAILURE 17 (OMIM:619146)
Gene: XRCC2
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Gene: XRCC2
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Aplasia/Hypoplasia of the uvula (HP:0010293)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Chromosome breakage (HP:0040012)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Abnormal morphology of ulna (HP:0040071)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 50 (OMIM:619145)
Gene: XRCC2
Phenotype: Aplasia/Hypoplasia of the iris (HP:0008053)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Epicanthus (HP:0000286)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormality of the upper limb (HP:0002817)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal femur morphology (HP:0002823)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: High palate (HP:0000218)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Growth delay (HP:0001510)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Growth delay (HP:0001510)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Aplasia/Hypoplasia of the radius (HP:0006501)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hearing abnormality (HP:0000364)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal aortic morphology (HP:0001679)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal aortic valve morphology (HP:0001646)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
Gene: XRCC2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Astigmatism (HP:0000483)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Strabismus (HP:0000486)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal eyelid morphology (HP:0000492)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Pes planus (HP:0001763)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Cataract (HP:0000518)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Proptosis (HP:0000520)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Weight loss (HP:0001824)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Ptosis (HP:0000508)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC2
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Fanconi pancytopenia; Fanconi anemia (ORPHA:84)
Gene: XRCC3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: XRCC3
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: XRCC3
Phenotype: Breast carcinoma (HP:0003002)
Associated disease: BREAST CANCER (OMIM:114480)
Gene: XRCC4
Phenotype: Acute leukemia (HP:0002488)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Ataxia (HP:0001251)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Dysarthria (HP:0001260)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: XRCC4
Phenotype: Micropenis (HP:0000054)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Severe short-limb dwarfism (HP:0008890)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: XRCC4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Lymphoma (HP:0002665)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Dysmetria (HP:0001310)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Malabsorption (HP:0002024)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Primary gonadal insufficiency (HP:0008193)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: XRCC4
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: XRCC4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Broad-based gait (HP:0002136)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Apraxia (HP:0002186)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Malar prominence (HP:0010620)
Associated disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Gene: XRCC4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Erythema (HP:0010783)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Nystagmus (HP:0000639)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: XRCC4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Hypotelorism (HP:0000601)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Anemia (HP:0001903)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Tooth malposition (HP:0000692)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Gene: XRCC4
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: XRCC4
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: XRCC4
Phenotype: Short stature (HP:0004322)
Associated disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)