TaoMedAI/RareMedData huggingface dataset:
Gene: SMOC2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Periapical bone loss (HP:0000700)
Associated disease: DENTIN DYSPLASIA, TYPE I (OMIM:125400)
Gene: SMOC2
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SMOC2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SMOC2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC39A8
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Poor speech (HP:0002465)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Poor head control (HP:0002421)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Poor head control (HP:0002421)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Seizure (HP:0001250)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Inability to walk (HP:0002540)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Inability to walk (HP:0002540)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Dystonia (HP:0001332)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Abnormal blood zinc concentration (HP:0008277)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Hypomanganesemia (HP:0032098)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Cutaneous syndactyly of toes (HP:0010621)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Osteopenia (HP:0000938)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Sudden episodic apnea (HP:0002882)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Flat face (HP:0012368)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Decreased mitochondrial complex III activity in liver tissue (HP:0006558)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Decreased activity of the pyruvate dehydrogenase complex (HP:0002928)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Low-set ears (HP:0000369)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Astigmatism (HP:0000483)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Astigmatism (HP:0000483)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: SLC39A8
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIn (OMIM:616721)
Gene: SLC39A8
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital disorder of glycosylation type IIn; Congenital disorder of glycosylation type 2n; CDG-IIn; CDG syndrome type IIn; CDG2N; SLC39A8 deficiency; SLC39A8-CDG; Carbohydrate deficient glycoprotein syndrome type IIn (ORPHA:468699)
Gene: RRAGC
Phenotype: Subependymal cysts (HP:0002416)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Death in childhood (HP:0003819)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Pachygyria (HP:0001302)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Microspherophakia (HP:0030961)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Infantile onset (HP:0003593)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Hyperammonemia (HP:0001987)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Third trimester onset (HP:0034197)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Macrocephaly (HP:0000256)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Low-set ears (HP:0000369)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Hypertelorism (HP:0000316)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)
Gene: RRAGC
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: LONG-OLSEN-DISTELMAIER SYNDROME (OMIM:620609)