TaoMedAI/RareMedData huggingface dataset:
Gene: NIPBL
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Low-set ears (HP:0000369)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Narrow forehead (HP:0000341)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Long philtrum (HP:0000343)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Long philtrum (HP:0000343)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Micrognathia (HP:0000347)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Micromelia (HP:0002983)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Micromelia (HP:0002983)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Heart murmur (HP:0030148)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Premature birth (HP:0001622)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Blepharitis (HP:0000498)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Macrotia (HP:0000400)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Astigmatism (HP:0000483)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Strabismus (HP:0000486)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Strabismus (HP:0000486)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Microcornea (HP:0000482)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Microcornea (HP:0000482)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Short neck (HP:0000470)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Short neck (HP:0000470)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Short foot (HP:0001773)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Short foot (HP:0001773)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Choanal atresia (HP:0000453)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Choanal atresia (HP:0000453)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Cataract (HP:0000518)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Long eyelashes (HP:0000527)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Proptosis (HP:0000520)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Ptosis (HP:0000508)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Ptosis (HP:0000508)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Glaucoma (HP:0000501)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NIPBL
Phenotype: Talipes (HP:0001883)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: NIPBL
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NIPBL
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Myopia (HP:0000545)
Associated disease: CORNELIA DE LANGE SYNDROME 1 (OMIM:122470)
Gene: NIPBL
Phenotype: Myopia (HP:0000545)
Associated disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Gene: COG4
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Motor delay (HP:0001270)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Ataxia (HP:0001251)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Ataxia (HP:0001251)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Thick hair (HP:0100874)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Thick hair (HP:0100874)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Hepatic failure (HP:0001399)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Cirrhosis (HP:0001394)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Absent speech (HP:0001344)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Absent speech (HP:0001344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Coxa valga (HP:0002673)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Generalized neonatal hypotonia (HP:0008935)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Irregular vertebral endplates (HP:0003301)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Syringomyelia (HP:0003396)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Spinal cord compression (HP:0002176)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Overhanging nasal tip (HP:0011833)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Enlarged epiphyses (HP:0010580)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Congenital onset (HP:0003577)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Intermittent diarrhea (HP:0002254)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Prominent superficial veins (HP:0001015)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Small hand (HP:0200055)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Short metatarsal (HP:0010743)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Short palm (HP:0004279)
Associated disease: Microcephalic osteodysplastic dysplasia, Saul-Wilson type (ORPHA:85172)
Gene: COG4
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital disorder of glycosylation type 2j; COG4-CDG; CDG-IIj; CDG2J; CDG syndrome type IIj; Congenital disorder of glycosylation type IIj; Carbohydrate deficient glycoprotein syndrome type IIj (ORPHA:263501)
Gene: COG4
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj (OMIM:613489)
Gene: COG4
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COG4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)
Gene: COG4
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COG4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: SAUL-WILSON SYNDROME (OMIM:618150)