TaoMedAI/RareMedData huggingface dataset:
Gene: CTBP1
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Malrotation of small bowel (HP:0004794)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormal sternal ossification (HP:0011863)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hernia (HP:0100790)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hemangioma (HP:0001028)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: EEG abnormality (HP:0002353)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Periventricular cysts (HP:0007109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Short thumb (HP:0009778)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Short thumb (HP:0009778)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Sclerocornea (HP:0000647)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Short stature (HP:0004322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Metacarpal pseudoepiphysis (HP:0009193)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Short hallux (HP:0010109)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Short hallux (HP:0010109)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Rib fusion (HP:0000902)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Rib fusion (HP:0000902)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Craniofacial asymmetry (HP:0004484)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Precocious puberty (HP:0000826)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Dry skin (HP:0000958)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Abnormality of the philtrum (HP:0000288)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Retrognathia (HP:0000278)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Kyphosis (HP:0002808)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: High palate (HP:0000218)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Disproportionate tall stature (HP:0001519)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Growth delay (HP:0001510)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Abnormality of the gallbladder (HP:0005264)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: High forehead (HP:0000348)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: High forehead (HP:0000348)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Short philtrum (HP:0000322)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Rib segmentation abnormalities (HP:0006655)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Strabismus (HP:0000486)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Strabismus (HP:0000486)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Megalocornea (HP:0000485)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME (OMIM:617915)
Gene: CTBP1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Webbed neck (HP:0000465)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Accessory spleen (HP:0001747)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Preaxial foot polydactyly (HP:0001841)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Proptosis (HP:0000520)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Proptosis (HP:0000520)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Ptosis (HP:0000508)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Ptosis (HP:0000508)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Telomeric deletion 4p; 4p- syndrome; Distal monosomy 4p; Distal deletion 4p; Wolf-Hirschhorn syndrome (ORPHA:280)
Gene: CTBP1
Phenotype: Hyperconvex fingernails (HP:0001812)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CTBP1
Phenotype: Rieger anomaly (HP:0000558)
Associated disease: WOLF-HIRSCHHORN SYNDROME (OMIM:194190)
Gene: CCN2
Phenotype: Narrow foramen obturatorium (HP:0100958)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Narrow foramen obturatorium (HP:0100958)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Bowed humerus (HP:0003865)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Arthritis (HP:0001369)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Cleft palate (HP:0000175)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Osteolysis (HP:0002797)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Dumbbell-shaped humerus (HP:0005009)
Associated disease: KYPHOMELIC DYSPLASIA (OMIM:211350)
Gene: CCN2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Dysphagia (HP:0002015)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Dyspnea (HP:0002094)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Limited cutaneous systemic scleroderma; Limited cutaneous systemic sclerosis (ORPHA:220402)
Gene: CCN2
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)
Gene: CCN2
Phenotype: Oliguria (HP:0100520)
Associated disease: Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Diffuse cutaneous systemic sclerosis (ORPHA:220393)