TaoMedAI/RareMedData huggingface dataset:
Gene: TTI2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Synophrys (HP:0000664)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Short stature (HP:0004322)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Irritability (HP:0000737)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Anteverted ears (HP:0040080)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Macrotia (HP:0000400)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Strabismus (HP:0000486)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Prominent nose (HP:0000448)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Prominent nose (HP:0000448)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TTI2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 (OMIM:615541)
Gene: TTI2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome (ORPHA:391307)
Gene: TTI2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TTI2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Myelomeningocele (HP:0002475)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Lipoma (HP:0012032)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Scoliosis (HP:0002650)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Bowel incontinence (HP:0002607)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Anal atresia (HP:0002023)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Arrhinencephaly (HP:0002139)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Abnormal iliac wing morphology (HP:0011867)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Impulsivity (HP:0100710)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Anencephaly (HP:0002323)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Aplasia/Hypoplasia of the sacrum (HP:0008517)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Asymmetry of spinal facet joints (HP:0008482)
Associated disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Gene: FUZ
Phenotype: Hypoplastic vertebral bodies (HP:0008479)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Chiari malformation (HP:0002308)
Associated disease: Caudal dysplasia; Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal regression sequence (ORPHA:3027)
Gene: FUZ
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FUZ
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FUZ
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)