TaoMedAI/RareMedData huggingface dataset:
Gene: GPC3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Hemihypertrophy (HP:0001528)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Death in infancy (HP:0001522)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Diastasis recti (HP:0001540)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Omphalocele (HP:0001539)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Abdominal mass (HP:0031500)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Abnormal helix morphology (HP:0011039)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Hoarse voice (HP:0001609)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Microscopic hematuria (HP:0002907)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Broad forehead (HP:0000337)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Prolonged QT interval (HP:0001657)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Small nail (HP:0001792)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Short neck (HP:0000470)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Webbed neck (HP:0000465)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Short nail (HP:0001799)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Short foot (HP:0001773)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Short foot (HP:0001773)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Broad foot (HP:0001769)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Broad foot (HP:0001769)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Polysplenia (HP:0001748)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Polysplenia (HP:0001748)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Aniridia (HP:0000526)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GPC3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Weight loss (HP:0001824)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Broad toe (HP:0001837)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC3
Phenotype: Short toe (HP:0001831)
Associated disease: SGBS; DGSX; SGBS1; Golabi-Rosen syndrome; SDYS; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel syndrome; X-linked dysplasia gigantism syndrome; Simpson-Golabi-Behmel syndrome type 1 (ORPHA:373)
Gene: GPC3
Phenotype: Macroscopic hematuria (HP:0012587)
Associated disease: Nephroblastoma; Wilms tumor; Renal embryonic tumor (ORPHA:654)
Gene: GPC3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GPC3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Cerebral degeneration (HP:0007313)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Developmental stagnation (HP:0007281)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Hypertonia (HP:0001276)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Seizure (HP:0001250)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Seizure (HP:0001250)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Seizure (HP:0001250)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Ataxia (HP:0001251)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Ataxia (HP:0001251)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Ataxia (HP:0001251)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Dysarthria (HP:0001260)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Spasticity (HP:0001257)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Broad metacarpals (HP:0001230)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Increased urinary galactosylated oligosaccharide (HP:0410346)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Pointed proximal second through fifth metacarpals (HP:0001223)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Acetabular dysplasia (HP:0008807)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Chondroitin sulfate excretion in urine (HP:0012070)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Flattened femoral head (HP:0008812)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Keratan sulfate excretion in urine (HP:0012069)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Joint stiffness (HP:0001387)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Slurred speech (HP:0001350)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Large sella turcica (HP:0002690)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Dystonia (HP:0001332)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Coxa valga (HP:0002673)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Coxa valga (HP:0002673)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Myoclonus (HP:0001336)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: GM1 gangliosidosis type 1; Norman-Landing disease; Infantile GM1 gangliosidosis (ORPHA:79255)
Gene: GLB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE I (OMIM:230500)
Gene: GLB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE II (OMIM:230600)
Gene: GLB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: GM1-GANGLIOSIDOSIS, TYPE III (OMIM:230650)
Gene: GLB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MUCOPOLYSACCHARIDOSIS, TYPE IVB (OMIM:253010)
Gene: GLB1
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GLB1
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GLB1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)