TaoMedAI/RareMedData huggingface dataset:
Gene: FDFT1
Phenotype: Macrotia (HP:0000400)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDFT1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Gene: FDPS
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POROKERATOSIS 9, MULTIPLE TYPES (OMIM:616631)
Gene: FDPS
Phenotype: Middle age onset (HP:0003596)
Associated disease: POROKERATOSIS 9, MULTIPLE TYPES (OMIM:616631)
Gene: FDPS
Phenotype: Porokeratosis (HP:0200044)
Associated disease: POROKERATOSIS 9, MULTIPLE TYPES (OMIM:616631)
Gene: FDPS
Phenotype: Porokeratosis (HP:0200044)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: FDPS
Phenotype: Juvenile onset (HP:0003621)
Associated disease: POROKERATOSIS 9, MULTIPLE TYPES (OMIM:616631)
Gene: FDPS
Phenotype: Young adult onset (HP:0011462)
Associated disease: POROKERATOSIS 9, MULTIPLE TYPES (OMIM:616631)
Gene: FDPS
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: FDPS
Phenotype: Pruritus (HP:0000989)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: FDPS
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: FDXR
Phenotype: Poor speech (HP:0002465)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Hypertonia (HP:0001276)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Seizure (HP:0001250)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Hypotonia (HP:0001252)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Ataxia (HP:0001251)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Spasticity (HP:0001257)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Clitoral hypertrophy (HP:0008665)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Abnormal mitochondrial shape (HP:0012087)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY (OMIM:617717)
Gene: FDXR
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Developmental regression (HP:0002376)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Preeclampsia (HP:0100602)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY (OMIM:617717)
Gene: FDXR
Phenotype: Nystagmus (HP:0000639)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Nystagmus (HP:0000639)
Associated disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY (OMIM:617717)
Gene: FDXR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Optic atrophy (HP:0000648)
Associated disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY (OMIM:617717)
Gene: FDXR
Phenotype: Blindness (HP:0000618)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Central scotoma (HP:0000603)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Small basal ganglia (HP:0012697)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Periventricular white matter hypodensities (HP:0012794)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY (OMIM:617717)
Gene: FDXR
Phenotype: Microcephaly (HP:0000252)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY (OMIM:617717)
Gene: FDXR
Phenotype: Premature birth (HP:0001622)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Cerebral white matter hypoplasia (HP:0012430)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Cataract (HP:0000518)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY (OMIM:617717)
Gene: FDXR
Phenotype: Visual impairment (HP:0000505)
Associated disease: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome (ORPHA:543470)
Gene: FDXR
Phenotype: Visual impairment (HP:0000505)
Associated disease: AUDITORY NEUROPATHY AND OPTIC ATROPHY (OMIM:617717)
Gene: FECH
Phenotype: Low tissue ferrochelatase activity (HP:6000697)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: FECH
Phenotype: Hepatic failure (HP:0001399)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: FECH
Phenotype: Cirrhosis (HP:0001394)
Associated disease: EPP; Autosomal erythropoietic protoporphyria (ORPHA:79278)
Gene: FECH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: FECH
Phenotype: Decreased liver function (HP:0001410)
Associated disease: EPP; Autosomal erythropoietic protoporphyria (ORPHA:79278)
Gene: FECH
Phenotype: Abnormal circulating porphyrin concentration (HP:0010472)
Associated disease: EPP; Autosomal erythropoietic protoporphyria (ORPHA:79278)
Gene: FECH
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: FECH
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: FECH
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: EPP; Autosomal erythropoietic protoporphyria (ORPHA:79278)
Gene: FECH
Phenotype: Erythema (HP:0010783)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: FECH
Phenotype: Erythema (HP:0010783)
Associated disease: EPP; Autosomal erythropoietic protoporphyria (ORPHA:79278)
Gene: FECH
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: EPP; Autosomal erythropoietic protoporphyria (ORPHA:79278)
Gene: FECH
Phenotype: Childhood onset (HP:0011463)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: FECH
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: EPP; Autosomal erythropoietic protoporphyria (ORPHA:79278)
Gene: FECH
Phenotype: Pruritus (HP:0000989)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: FECH
Phenotype: Pruritus (HP:0000989)
Associated disease: EPP; Autosomal erythropoietic protoporphyria (ORPHA:79278)
Gene: FECH
Phenotype: Edema (HP:0000969)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: FECH
Phenotype: Edema (HP:0000969)
Associated disease: EPP; Autosomal erythropoietic protoporphyria (ORPHA:79278)
Gene: FECH
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: FECH
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: EPP; Autosomal erythropoietic protoporphyria (ORPHA:79278)
Gene: FECH
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: PROTOPORPHYRIA, ERYTHROPOIETIC, 1 (OMIM:177000)
Gene: GPC4
Phenotype: Broad palm (HP:0001169)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Brachydactyly (HP:0001156)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Postaxial hand polydactyly (HP:0001162)
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 hand polydactyly (HP:0001162)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Anterior creases of earlobe (HP:0009908)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Agenesis of corpus callosum (HP:0001274)
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: Agenesis of corpus callosum (HP:0001274)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Motor delay (HP:0001270)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
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: Hypotonia (HP:0001252)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Intellectual disability (HP:0001249)
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: Intellectual disability (HP:0001249)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Global developmental delay (HP:0001263)
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: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Supernumerary nipple (HP:0002558)
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: Supernumerary nipple (HP:0002558)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Finger syndactyly (HP:0006101)
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: Hypoplasia of penis (HP:0008736)
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: Tall stature (HP:0000098)
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: Tall stature (HP:0000098)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Ureteral duplication (HP:0000073)
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: Hydroureter (HP:0000072)
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 hip dislocation (HP:0001374)
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: Joint hypermobility (HP:0001382)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Hypospadias (HP:0000047)
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: Hypospadias (HP:0000047)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Inguinal hernia (HP:0000023)
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: Inguinal hernia (HP:0000023)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Cryptorchidism (HP:0000028)
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: Cryptorchidism (HP:0000028)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Two carpal ossification centers present at birth (HP:0006176)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Neoplasm (HP:0002664)
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: Nephroblastoma (HP:0002667)
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: Nephroblastoma (HP:0002667)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: GPC4
Phenotype: Multicystic kidney dysplasia (HP:0000003)
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: Autosomal dominant inheritance (HP:0000006)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: GPC4
Phenotype: Dandy-Walker malformation (HP:0001305)
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: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Scoliosis (HP:0002650)
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: Scoliosis (HP:0002650)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Narrow palate (HP:0000189)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Macroglossia (HP:0000158)
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: Macroglossia (HP:0000158)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Cleft palate (HP:0000175)
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 palate (HP:0000175)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Wide mouth (HP:0000154)
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: Wide mouth (HP:0000154)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Unilateral ptosis (HP:0007687)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: High, narrow palate (HP:0002705)
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: Hydronephrosis (HP:0000126)
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: Hydronephrosis (HP:0000126)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: WILMS TUMOR 1 (OMIM:194070)
Gene: GPC4
Phenotype: Renal cyst (HP:0000107)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Exaggerated median tongue furrow (HP:0002711)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Anal atresia (HP:0002023)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KEIPERT SYNDROME (OMIM:301026)
Gene: GPC4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Nasodigitoacoustic syndrome; Keipert syndrome (ORPHA:2662)
Gene: GPC4
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)
Gene: GPC4
Phenotype: Bundle branch block (HP:0011710)
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 lung lobation (HP:0002101)
Associated disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1 (OMIM:312870)