TaoMedAI/RareMedData huggingface dataset:
Gene: GPC4
Phenotype: Vertebral segmentation defect (HP:0003422)
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: GPC4
Phenotype: Vertebral segmentation defect (HP:0003422)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Abnormal speech pattern (HP:0002167)
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: GPC4
Phenotype: Nail dysplasia (HP:0002164)
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: GPC4
Phenotype: Camptodactyly of finger (HP:0100490)
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: GPC4
Phenotype: Short 2nd finger (HP:0009536)
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: GPC4
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Hepatomegaly (HP:0002240)
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: GPC4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Six lumbar vertebrae (HP:0008416)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Aplastic/hypoplastic toenail (HP:0010624)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Birth length greater than 97th percentile (HP:0003517)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Posterior helix pit (HP:0008523)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
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: GPC4
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Broad hallux phalanx (HP:0010059)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Short palm (HP:0004279)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Duplication of renal pelvis (HP:0005580)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Hypoglycemia (HP:0001943)
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: GPC4
Phenotype: Broad hallux (HP:0010055)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Broad thumb (HP:0011304)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Broad thumb (HP:0011304)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Broad thumb (HP:0011304)
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: GPC4
Phenotype: Broad thumb (HP:0011304)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Short stature (HP:0004322)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Accelerated skeletal maturation (HP:0005616)
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: GPC4
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
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: GPC4
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Aplasia/Hypoplasia of the distal phalanges of the toes (HP:0010185)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Neuroblastoma (HP:0003006)
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: GPC4
Phenotype: Submucous cleft lip (HP:0009101)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Abnormal rib morphology (HP:0000772)
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: GPC4
Phenotype: Pectus excavatum (HP:0000767)
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: GPC4
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Short hallux (HP:0010109)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Short ribs (HP:0000773)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
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: GPC4
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Short nose (HP:0003196)
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: GPC4
Phenotype: Short nose (HP:0003196)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Short greater sciatic notch (HP:0003185)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Preauricular pit (HP:0004467)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Postauricular pit (HP:0004464)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Short sternum (HP:0000879)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Cervical ribs (HP:0000891)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Increased circulating IgE concentration (HP:0003212)
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: GPC4
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Pancreatic islet-cell hyperplasia (HP:0004510)
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: GPC4
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Aplasia/Hypoplasia of the abdominal wall musculature (HP:0010318)
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: GPC4
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Short finger (HP:0009381)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Arrhythmia (HP:0011675)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Epicanthus (HP:0000286)
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: GPC4
Phenotype: Epicanthus (HP:0000286)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Epicanthus (HP:0000286)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Coarse facial features (HP:0000280)
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: GPC4
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Macrocephaly (HP:0000256)
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: GPC4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Embryonal neoplasm (HP:0002898)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Hepatoblastoma (HP:0002884)
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: GPC4
Phenotype: Hepatoblastoma (HP:0002884)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Overgrowth (HP:0001548)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
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: GPC4
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
Phenotype: Diastasis recti (HP:0001540)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Flared iliac wing (HP:0002869)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
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: GPC4
Phenotype: Camptodactyly (HP:0012385)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
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: GPC4
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: GPC4
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: GPC4
Phenotype: Total anomalous pulmonary venous return (HP:0005160)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Hearing impairment (HP:0000365)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
Phenotype: Low-set ears (HP:0000369)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Broad forehead (HP:0000337)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Broad forehead (HP:0000337)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Right ventricular hypertrophy (HP:0001667)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
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: GPC4
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: GPC4
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Strabismus (HP:0000486)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
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: GPC4
Phenotype: Anteverted nares (HP:0000463)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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: GPC4
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: GPC4
Phenotype: Short nail (HP:0001799)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
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)