TaoMedAI/RareMedData huggingface dataset:
Gene: EXTL3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Fetal distress (HP:0025116)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Simple ear (HP:0020206)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
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: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Generalized hypotonia (HP:0001290)
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: Sepsis (HP:0100806)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Hypertonia (HP:0001276)
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: Motor delay (HP:0001270)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Motor delay (HP:0001270)
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: Seizure (HP:0001250)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Hyporeflexia (HP:0001265)
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: Global developmental delay (HP:0001263)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Global developmental delay (HP:0001263)
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: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Broad metacarpals (HP:0001230)
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: No social interaction (HP:0008763)
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: Broad ischia (HP:0100865)
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: Broad ischia (HP:0100865)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Inability to walk (HP:0002540)
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 ossification of carpal bones (HP:0001216)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Acetabular dysplasia (HP:0008807)
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: Horseshoe kidney (HP:0000085)
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 ability to sit (HP:0025336)
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 dysplasia (HP:0001385)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Cloverleaf skull (HP:0002676)
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: Cloverleaf skull (HP:0002676)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Hyperreflexia (HP:0001347)
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: Hyperreflexia (HP:0001347)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Craniosynostosis (HP:0001363)
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: Craniosynostosis (HP:0001363)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Specific learning disability (HP:0001328)
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: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Absent speech (HP:0001344)
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 valga (HP:0002673)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Open mouth (HP:0000194)
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: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Narrow mouth (HP:0000160)
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: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Axial hypotonia (HP:0008936)
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: Axial hypotonia (HP:0008936)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Delayed skeletal maturation (HP:0002750)
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 infections (HP:0002719)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Anal atresia (HP:0002023)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Frontal bossing (HP:0002007)
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: Frontal bossing (HP:0002007)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
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: Abnormality of the cervical spine (HP:0003319)
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: Rigidity (HP:0002063)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
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: Narrow greater sciatic notch (HP:0003375)
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: Narrow greater sciatic notch (HP:0003375)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Ventriculomegaly (HP:0002119)
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: Chalazion (HP:0010605)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Generalized-onset seizure (HP:0002197)
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: Generalized-onset seizure (HP:0002197)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Clonus (HP:0002169)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Disproportionate short stature (HP:0003498)
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: Disproportionate short stature (HP:0003498)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Opisthotonus (HP:0002179)
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: Opisthotonus (HP:0002179)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Congenital onset (HP:0003577)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Hepatomegaly (HP:0002240)
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: Laryngotracheal stenosis (HP:0004894)
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: Laryngotracheal stenosis (HP:0004894)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Severely increased total eosinophil count (HP:0032061)
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 short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Cervical cord compression (HP:0002341)
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: Erythroderma (HP:0001019)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Limb undergrowth (HP:0009826)
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: Limb undergrowth (HP:0009826)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Short phalanx of finger (HP:0009803)
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 phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Cervical instability (HP:0008462)
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: Cervical instability (HP:0008462)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Cervical spinal canal stenosis (HP:0008445)
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: Cervical spinal canal stenosis (HP:0008445)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Broad phalanges of the hand (HP:0009768)
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: Neonatal onset (HP:0003623)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Drooling (HP:0002307)
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: Juvenile onset (HP:0003621)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Multiple renal cysts (HP:0005562)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Nystagmus (HP:0000639)
Associated disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Gene: EXTL3
Phenotype: Nystagmus (HP:0000639)
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: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EXTL3
Phenotype: Short metacarpal (HP:0010049)
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 metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: EXTL3
Phenotype: Distal lower limb muscle weakness (HP:0009053)
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)