TaoMedAI/RareMedData huggingface dataset:
Gene: LIG4
Phenotype: Scoliosis (HP:0002650)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Amenorrhea (HP:0000141)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Wide mouth (HP:0000154)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MYELOMA, MULTIPLE (OMIM:254500)
Gene: LIG4
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Anal stenosis (HP:0002025)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Malabsorption (HP:0002024)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Malabsorption (HP:0002024)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Constipation (HP:0002019)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Vomiting (HP:0002013)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Asthma (HP:0002099)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Asthma (HP:0002099)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Pneumonia (HP:0002090)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Aplasia/Hypoplasia of the thumb (HP:0009601)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Abnormality of thumb phalanx (HP:0009602)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Adult onset (HP:0003581)
Associated disease: MYELOMA, MULTIPLE (OMIM:254500)
Gene: LIG4
Phenotype: Fine hair (HP:0002213)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Telangiectasia (HP:0001009)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Erythroderma (HP:0001019)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Thyroiditis (HP:0100646)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Thickened skin (HP:0001072)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Small hand (HP:0200055)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Erythema (HP:0010783)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Photophobia (HP:0000613)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Fever (HP:0001945)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Hypotelorism (HP:0000601)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Anemia (HP:0001903)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Anemia (HP:0001903)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Dental crowding (HP:0000678)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Broad thumb (HP:0011304)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Short stature (HP:0004322)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Abnormal lymphocyte morphology (HP:0004332)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Short attention span (HP:0000736)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Auditory hypersensitivity (HP:5200060)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Abnormality of chromosome stability (HP:0003220)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Pruritus (HP:0000989)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Plantar warts (HP:0033005)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Dry skin (HP:0000958)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Dry skin (HP:0000958)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Edema (HP:0000969)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Epicanthus (HP:0000286)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Epicanthus (HP:0000286)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Epicanthus (HP:0000286)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Alopecia (HP:0001596)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Narrow face (HP:0000275)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Microcephaly (HP:0000252)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Microcephaly (HP:0000252)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Microcephaly (HP:0000252)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Brachycephaly (HP:0000248)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: High palate (HP:0000218)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Myelodysplasia (HP:0002863)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Small for gestational age (HP:0001518)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Growth delay (HP:0001510)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Amyloidosis (HP:0011034)
Associated disease: MYELOMA, MULTIPLE (OMIM:254500)
Gene: LIG4
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Narrow forehead (HP:0000341)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Micrognathia (HP:0000347)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Micrognathia (HP:0000347)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Bird-like facies (HP:0000320)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Astigmatism (HP:0000483)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Strabismus (HP:0000486)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Megalocornea (HP:0000485)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Short foot (HP:0001773)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Prominent nose (HP:0000448)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Protruding ear (HP:0000411)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Acute lymphoblastic leukemia (HP:0006721)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Multiple myeloma (HP:0006775)
Associated disease: MYELOMA, MULTIPLE (OMIM:254500)
Gene: LIG4
Phenotype: Cataract (HP:0000518)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Sandal gap (HP:0001852)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Telecanthus (HP:0000506)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Telecanthus (HP:0000506)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Ptosis (HP:0000508)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Short toe (HP:0001831)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Increased total eosinophil count (HP:0001880)
Associated disease: Combined immunodeficiency with hypereosinophilia; Omenn syndrome (ORPHA:39041)
Gene: LIG4
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIG4
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Pancytopenia (HP:0001876)
Associated disease: DNA ligase IV deficiency; Ligase 4 syndrome; LIG4 syndrome (ORPHA:99812)
Gene: LIG4
Phenotype: Pancytopenia (HP:0001876)
Associated disease: LIG4 SYNDROME (OMIM:606593)
Gene: LIG4
Phenotype: Myopia (HP:0000545)
Associated disease: Dubowitz syndrome (ORPHA:235)
Gene: LIM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 19, MULTIPLE TYPES (OMIM:615277)
Gene: LIM2
Phenotype: Nystagmus (HP:0000639)
Associated disease: CATARACT 19, MULTIPLE TYPES (OMIM:615277)
Gene: LIM2
Phenotype: Amblyopia (HP:0000646)
Associated disease: CATARACT 19, MULTIPLE TYPES (OMIM:615277)
Gene: LIM2
Phenotype: Cortical pulverulent cataract (HP:0007780)
Associated disease: CATARACT 19, MULTIPLE TYPES (OMIM:615277)
Gene: LIMK1
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Stroke (HP:0001297)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Renovascular hypertension (HP:0100817)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Ataxia (HP:0001251)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Spasticity (HP:0001257)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
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: LIMK1
Phenotype: Urethral stenosis (HP:0008661)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Renal duplication (HP:0000075)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: LIMK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)