TaoMedAI/RareMedData huggingface dataset:
Gene: SLC35A2
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Absent speech (HP:0001344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Coxa valga (HP:0002673)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Open mouth (HP:0000194)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Floppy infant (HP:0008947)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Short corpus callosum (HP:0200012)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Elevated brain N-acetyl aspartate level by MRS (HP:0025053)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Abnormal long bone morphology (HP:0011314)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Short stature (HP:0004322)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Ocular flutter (HP:0031931)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Short tibia (HP:0005736)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Abnormal isoelectric focusing of serum transferrin (HP:0003160)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Anisometropia (HP:0012803)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Precocious puberty (HP:0000826)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Hypertension (HP:0000822)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Aplasia/hypoplasia involving bones of the extremities (HP:0045060)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Osteopenia (HP:0000938)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Full cheeks (HP:0000293)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Vesicovaginal fistula (HP:0001586)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Hip subluxation (HP:0030043)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Fused teeth (HP:0011090)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Decreased sialylation of O-linked protein glycosylation (HP:0012363)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Abnormal glycosylation (HP:0012345)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Decreased galactosylation of N-linked protein glycosylation (HP:0012348)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Short philtrum (HP:0000322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Strabismus (HP:0000486)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: SLC35A2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Exotropia (HP:0000577)
Associated disease: CDG-IIm; SLC35A2-CDG; CDG2M; CDG syndrome type IIm; Congenital disorder of glycosylation type IIm; Congenital disorder of glycosylation type 2m (ORPHA:356961)
Gene: SLC35A2
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm (OMIM:300896)
Gene: UGDH
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Areflexia (HP:0001284)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Chorea (HP:0002072)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Babinski sign (HP:0003487)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Opisthotonus (HP:0002179)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Large earlobe (HP:0009748)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Synophrys (HP:0000664)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Epicanthus (HP:0000286)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Pointed chin (HP:0000307)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Deeply set eye (HP:0000490)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Ptosis (HP:0000508)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGDH
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84 (OMIM:618792)
Gene: UGP2
Phenotype: High anterior hairline (HP:0009890)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)
Gene: UGP2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 83 (OMIM:618744)