TaoMedAI/RareMedData huggingface dataset:
Gene: SLC35C1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Palpebral edema (HP:0100540)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Pneumonia (HP:0002090)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Mucopolysacchariduria (HP:0008155)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Oligosacchariduria (HP:0010471)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Increased total neutrophil count (HP:0011897)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Echolalia (HP:0010529)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Chronic lymphocytic meningitis (HP:0007041)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Esodeviation (HP:0020045)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Cellulitis (HP:0100658)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Skin vesicle (HP:0200037)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Limb undergrowth (HP:0009826)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Protruding tongue (HP:0010808)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Small hand (HP:0200055)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Scarring (HP:0100699)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Recurrent fever (HP:0001954)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Anemia (HP:0001903)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Long upper lip (HP:0011341)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Organic aciduria (HP:0001992)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Short stature (HP:0004322)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Anxiety (HP:0000739)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Autism (HP:0000717)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Periodontitis (HP:0000704)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Abnormal circulating amino acid concentration (HP:0003112)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Abnormality of the integument (HP:0001574)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Small earlobe (HP:0000385)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Widow's peak (HP:0000349)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Impaired tandem gait (HP:0031629)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Keratitis (HP:0000491)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Short foot (HP:0001773)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Reduction of neutrophil motility (HP:0005400)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SLC35C1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Abnormal serum insulin-like growth factor 1 level (HP:0030352)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc (OMIM:266265)
Gene: SLC35C1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: Rambam-Hasharon syndrome; SLC35C1-CDG; CDG-IIc; LAD-II; Leukocyte adhesion deficiency type II; CDG syndrome type IIc; CDG2C (ORPHA:99843)
Gene: SLC35C1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SLC35C1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PI4K2A
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Myoclonus (HP:0001336)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Heat intolerance (HP:0002046)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Gene: PI4K2A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)