TaoMedAI/RareMedData huggingface dataset:
Gene: EXTL3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Enlarged metaphyses (HP:0003051)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Young adult onset (HP:0011462)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Severe combined immunodeficiency (HP:0004430)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Scaphocephaly (HP:0030799)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Short nose (HP:0003196)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Short nose (HP:0003196)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Long nose (HP:0003189)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Hypoplasia of the capital femoral epiphysis (HP:0003090)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Pear-shaped vertebrae (HP:0004566)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Severe platyspondyly (HP:0004565)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Aplasia/hypoplasia involving bones of the extremities (HP:0045060)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Metaphyseal dysplasia (HP:0100255)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Sacral dimple (HP:0000960)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Trident acetabulum (HP:0034374)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Full cheeks (HP:0000293)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Full cheeks (HP:0000293)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Long face (HP:0000276)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Coxa vara (HP:0002812)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Abnormal limb bone morphology (HP:0002813)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Kyphosis (HP:0002808)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Microcephaly (HP:0000252)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Microcephaly (HP:0000252)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Death in infancy (HP:0001522)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Abnormal ilium morphology (HP:0002867)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Decreased mitogen-induced T-cell proliferation (HP:0031381)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Long philtrum (HP:0000343)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Micrognathia (HP:0000347)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Short chin (HP:0000331)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Focal myoclonic seizure (HP:0011166)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Blepharitis (HP:0000498)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Increased intervertebral space (HP:0030320)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Increased intervertebral space (HP:0030320)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Severe T-cell immunodeficiency (HP:0005352)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Abnormally low T cell receptor excision circle level (HP:0031545)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Prominent nose (HP:0000448)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Decreased CD8+ T cell proportion (HP:0005415)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Gene: EXTL3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Proptosis (HP:0000520)
Associated disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)