{"Name":"SLC39A8-CDG","DiseaseID__c":"GARD:0017846","id":17846,"encodedName":"slc39a8-cdg","IsDeleted":false,"Disease_Name_Full__c":"SLC39A8-CDG","Xref_IDs__c":"C4225234; DOID:0070266; MEDGEN:899837; MONDO:0014746; NBK590152; OMIM:616721; ORPHA:468699","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:468699","Disease_Description__c":"A rare congenital disorder of glycosylation characterized by infantile onset of global developmental delay, severe intellectual disability, hypotonia, and variable additional features including short stature, cranial asymmetry, seizures, strabismus, recurrent infections, and osteopenia, among others. Laboratory analysis reveals decreased blood levels of zinc and manganese, as well as an abnormal serum transferrin glycosylation pattern with decreased tetrasialo- and increased asialo-, monosialo-, disialo, and trisialo-transferrin, consistent with a type II congenital disorder of glycosylation. Brain imaging shows cerebellar and/or cerebral atrophy.","GARD_Name__c":"SLC39A8-CDG","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type iin; cdg iin; cdg syndrome type iin; cdg-iin; cdg2n; congenital disorder of glycosylation type 2n; congenital disorder of glycosylation type iin; congenital disorder of glycosylation, type iin; slc39a8 congenital disorder of glycosylation; slc39a8 deficiency; slc39a8-cdg - solute carrier family 39 member 8 congenital disorder of glycosylation; solute carrier family 39 member 8 congenital disorder of glycosylation","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"SLC39A8-CDG is a rare, genetic, metabolic condition that presents during infancy. The condition impairs glycosylation. Glycosylation is the body's ability to attach groups of sugars to proteins. This hinders the proteins from doing important jobs within the body's cells and tissues. As a result, people with SLC39A8-CDG experience a range of symptoms. Symptoms include delayed development, severe intellectual disability, and decreased muscle tone (hypotonia). People with this disease may also experience short stature and asymmetrical head shape. They may have seizures, crossed eyes (strabismus), and recurrent infections. This condition can also cause decreased bone mineral density (osteopenia). Lab results may show low levels of zinc and manganese. Lab results may show atypical patterns of sugar attachment to a protein called transferrin. As this disease progresses, various areas of the brain can shrink (atrophy).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:468699","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014746","ORPHANET_ID__c":"ORPHA:468699","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Slc39a8-cdg","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"slc39a8-cdg","Spanish_GARD_Synonym__c":"cdg-iin; cdg2n; deficiencia de slc39a8; síndrome cdg tipo iin; síndrome de glicoproteínas deficientes en carbohidratos tipo iin; trastorno congénito de la glicosilación tipo 2n; trastorno congénito de la glicosilación tipo iin","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"SLC39A8-CDG is a rare, genetic, metabolic condition that presents during infancy. The condition impairs glycosylation. Glycosylation is the body's ability to attach groups of sugars to proteins. This hinders the proteins from doing important jobs within the body's cells and tissues. As a result, people with SLC39A8-CDG experience a range of symptoms. Symptoms include delayed development, severe intellectual disability, and decreased muscle tone (hypotonia). People with this disease may also experience short stature and asymmetrical head shape. They may have seizures, crossed eyes (strabismus), and recurrent infections. This condition can also cause decreased bone mineral density (osteopenia). Lab results may show low levels of zinc and manganese. Lab results may show atypical patterns of sugar attachment to a protein called transferrin. As this disease progresses, various areas of the brain can shrink (atrophy).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"carbohydrate deficient glycoprotein syndrome type iin; cdg iin; cdg syndrome type iin; cdg-iin; cdg2n; congenital disorder of glycosylation type 2n; congenital disorder of glycosylation type iin; congenital disorder of glycosylation, type iin; slc39a8 congenital disorder of glycosylation; slc39a8 deficiency; slc39a8-cdg - solute carrier family 39 member 8 congenital disorder of glycosylation; solute carrier family 39 member 8 congenital disorder of glycosylation","Name":"SLC39A8-CDG","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CDG CARE","Website__c":"https://cdgcare.org/"},{"Account_Name__c":"CDG & Allies - PPAIN","Website__c":"https://worldcdg.org/hashtags/cdg-allies-ppain"},{"Account_Name__c":"CDG Canada","Website__c":"https://canadacdg.com/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:468699"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK590152","Source__c":"Gene Review","Xref__c":"NBK590152"},{"URL__c":"https://www.omim.org/entry/616721","Source__c":"C4225234; MONDO:0014746; ORPHA:468699","Xref__c":"OMIM:616721"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=899837","Source__c":"C4225234","Xref__c":"MEDGEN:899837"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070266","Source__c":"MONDO:0014746","Xref__c":"DOID:0070266"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4225234","Source__c":"C4225234","Xref__c":"C4225234"},{"URL__c":"https://www.orpha.net/en/disease/detail/468699","Source__c":"C4225234; MONDO:0014746; ORPHA:468699","Xref__c":"ORPHA:468699"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014746","Source__c":"GARD:0017846","Xref__c":"MONDO:0014746"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187171005","Source__c":"C4225234","Xref__c":"1187171005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC39A8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002421","HPO_Synonym__c":"Delay in head control; Delay in head righting; Infant head lag; Poor head control","HPO_Name__c":"Poor head control","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A soft tissue continuity in the anteroposterior axis between adjacent foot digits that involves at least half of the proximodistal length of one of the two involved digits; or, a soft tissue continuity in the A/P axis between two digits of the foot that does not meet the prior objective criteria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010621","HPO_Synonym__c":"Cutaneous syndactyly of feet; soft tissue syndactyly of toes; Webbed skin of toes","HPO_Name__c":"Cutaneous syndactyly of toes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001363","HPO_Synonym__c":"Cranial suture synostosis; Craniosyostosis; Early fusion of cranial sutures; Premature closure of cranial sutures; Premature suture closure","HPO_Name__c":"Craniosynostosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Recurrent bouts of sudden, severe apnea that may be life-threatening.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002882","HPO_Name__c":"Sudden episodic apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Limb shortening because of underdevelopment of one or more bones of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009826","HPO_Synonym__c":"Hypoplasia involving bones of the extremities; limb shortening; Limb undergrowth; Short limb; Short limbs","HPO_Name__c":"Limb undergrowth","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002928","HPO_Synonym__c":"Decreased activity of the PDH complex; Pyruvate dehydrogenase complex deficiency","HPO_Name__c":"Decreased activity of the pyruvate dehydrogenase complex","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002521","HPO_Synonym__c":"Hypsarrhythmia by EEG","HPO_Name__c":"Hypsarrhythmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002187","HPO_Synonym__c":"Intellectual disability, profound; IQ less than 20; Mental retardation, profound; Profound mental retardation","HPO_Name__c":"Profound intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal transferrin isoform profile consistent with a type II congenital disorder of glycosylation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012301","HPO_Synonym__c":"Abnormal isoelectric focusing of serum transferrin, type II pattern; Isoelectric focusing of serum transferrin consistent with CDG type II; Type 2 transferrin isoform profile","HPO_Name__c":"Type II transferrin isoform profile","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the activity of the mitochondrial respiratory chain complex II, which is part of the electron transport chain in mitochondria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008314","HPO_Name__c":"Decreased activity of mitochondrial complex II","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006829","HPO_Synonym__c":"Hypotonia, severe; Severely decreased muscle tone","HPO_Name__c":"Severe muscular hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction below the normal concentration of manganese in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032098","HPO_Name__c":"Hypomanganesemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000938","HPO_Synonym__c":"Generalized osteopenia","HPO_Name__c":"Osteopenia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002465","HPO_Synonym__c":"Poor speech","HPO_Name__c":"Poor speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Decreased activity of complex III of the mitochondrion in the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006558","HPO_Name__c":"Decreased mitochondrial complex III activity in liver tissue","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in the activity of the mitochondrial respiratory chain complex IV, which is part of the electron transport chain in mitochondria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008347","HPO_Name__c":"Decreased activity of mitochondrial complex IV","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the cortex of the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002120","HPO_Synonym__c":"Cerebral cortex atrophy; Cortical atrophy; Decrease in size of the outer layer of the brain due to loss of brain cells","HPO_Name__c":"Cerebral cortical atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of zinc ion homeostasis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008277","HPO_Synonym__c":"Abnormality of zinc homeostasis","HPO_Name__c":"Abnormal blood zinc concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008873","HPO_Synonym__c":"Brachymelic dwarfism; Disproportionate short limb dwarfism; Dwarfism, short-limbed; Micromelic dwarfism; Short limb dwarfism, disproportionate; Short stature, disproportionate short limb; Short stature, disproportionate short-limb; Short-limb dwarfism; Short-limbed dwarfism","HPO_Name__c":"Disproportionate short-limb short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficit in the ability to fixate eye movements in order to stabilize images on the retina","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025405","HPO_Synonym__c":"Instability of ocular fixation","HPO_Name__c":"Visual fixation instability","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000540","HPO_Synonym__c":"Farsightedness; Hyperopia; Long-sightedness","HPO_Name__c":"Hypermetropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A profound delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012736","HPO_Synonym__c":"Global developmental delay, profound","HPO_Name__c":"Profound global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased concentration of lactate in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002490","HPO_Synonym__c":"Hyperlactatorachia; Increased cerebrospinal fluid lactate; Increased CSF lactic acid","HPO_Name__c":"Increased CSF lactate","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002987","HPO_Synonym__c":"Elbow flexion contractures; Elbow flexion deformity; Fixed flexion at the elbow joint","HPO_Name__c":"Elbow flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of refraction error associated with abnormal curvatures on the anterior and/or posterior surface of the cornea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000483","HPO_Synonym__c":"Abnormal curving of the cornea or lens of the eye; Astigmatism","HPO_Name__c":"Astigmatism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of knee joint contracture in which the knee is in a fixed bent (flexed) configuration such that it cannot be straightened actively or passively.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006380","HPO_Synonym__c":"Flexion contracture of knees; Flexion contractures at both knees; Flexion contractures of knees; Flexion deformity of the knee; Knee flexion contractures; Knee flexion deformity","HPO_Name__c":"Knee flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of concavity or convexity of the face when viewed in profile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012368","HPO_Synonym__c":"Flat face; Flat facial profile; Flat facial shape; Flat facies","HPO_Name__c":"Flat face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:468699","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001531","HPO_Synonym__c":"Failure to thrive in first year of life; Faltering weight in infancy; Weight faltering in infancy","HPO_Name__c":"Failure to thrive in infancy","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["carbohydrate deficient glycoprotein syndrome type iin"," cdg iin"," cdg syndrome type iin"," cdg-iin"," cdg2n"," congenital disorder of glycosylation type 2n"," congenital disorder of glycosylation type iin"," congenital disorder of glycosylation, type iin"," slc39a8 congenital disorder of glycosylation"," slc39a8 deficiency"," slc39a8-cdg - solute carrier family 39 member 8 congenital disorder of glycosylation"," solute carrier family 39 member 8 congenital disorder of glycosylation"]}