{"Name":"GM1 gangliosidosis type 2","DiseaseID__c":"GARD:0010126","id":10126,"encodedName":"gm1-gangliosidosis-type-2","IsDeleted":false,"Disease_Name_Full__c":"GM1 gangliosidosis type 2","Xref_IDs__c":"18756002; 423022186; C0268272; DOID:0080501; MEDGEN:120625; MONDO:0009261; OMIM:230600; ORPHA:79256","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":8,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009261","Disease_Description__c":"GM1 gangliosidosis type 2 is a clinically variable, infancy or childhood-onset form of GM1 gangliosidosis (see this term) characterized by normal early development and psychomotor regression between seven months and three years of age.","GARD_Name__c":"GM1 gangliosidosis type 2","GARD_Synonym__c":"gangliosidosis, generalized gm1, juvenile type; gangliosidosis, generalized gm1, type 2; gangliosidosis, generalized gm1, type ii; gm1 gangliosidosis type ii; gm1 gangliosidosis, type 2; gm1-gangliosidosis, type ii; juvenile gm>1< gangliosidosis; juvenile gm1 gangliosidosis; late-infantile gm1 gangliosidosis","Curated_Disease_Description_Source__c":"GARD:0010126","Curated_Disease_Description__c":"GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by genetic changes in the GLB1 gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:79256","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009261","ORPHANET_ID__c":"ORPHA:79256","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Gangliosidosis gm1 tipo 2","Spanish_Description_Source__c":"ORPHA:79256","Spanish_Description__c":"La gangliosidosis GM1 tipo 2 es una forma clínicamente variable de la gangliosidosis GM1 (consulte este término) de aparición en la infancia o la niñez, caracterizado por un desarrollo inicial normal y una regresión psicomotora entre los siete meses y los tres años de edad.","Spanish_Disease_Name__c":"gangliosidosis gm1 tipo 2","Spanish_GARD_Synonym__c":"gangliosidosis gm1 infantil tardía; gangliosidosis gm1 juvenil","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":"GM1 gangliosidosis is an inherited lysosomal storage disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. The condition may be classified into three major types based on the general age that signs and symptoms first appear: classic infantile (type 1); juvenile (type 2); and adult onset or chronic (type 3). Although the types differ in severity, their features may overlap significantly. GM1 gangliosidosis is caused by genetic changes in the GLB1 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0010126","GARD_Synonym__c":"gangliosidosis, generalized gm1, juvenile type; gangliosidosis, generalized gm1, type 2; gangliosidosis, generalized gm1, type ii; gm1 gangliosidosis type ii; gm1 gangliosidosis, type 2; gm1-gangliosidosis, type ii; juvenile gm>1< gangliosidosis; juvenile gm1 gangliosidosis; late-infantile gm1 gangliosidosis","Name":"GM1 gangliosidosis type 2","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.org/"},{"Account_Name__c":"National Tay-Sachs and Allied Diseases Association","Website__c":"https://www.ntsad.org/"},{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Alex The Leukodystrophy Charity","Website__c":"https://www.alextlc.org"},{"Account_Name__c":"Cure GM1 Foundation","Website__c":"https://curegm1.org/"}],"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":"Ophthalmology","Tag_Category__c":"Specialist"},{"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":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"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":"Childhood","Provided_By__c":"ORPHA:79256"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010126","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK164500","Source__c":"Gene Review","Xref__c":"NBK164500"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=120625","Source__c":"C0268272","Xref__c":"MEDGEN:120625"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080501","Source__c":"MONDO:0009261","Xref__c":"DOID:0080501"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268272","Source__c":"C0268272","Xref__c":"C0268272"},{"URL__c":"https://www.omim.org/entry/230600","Source__c":"C0268272; MONDO:0009261; ORPHA:79256","Xref__c":"OMIM:230600"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=18756002","Source__c":"C0268272; MONDO:0009261","Xref__c":"18756002"},{"URL__c":"https://www.orpha.net/en/disease/detail/79256","Source__c":"C0268272; MONDO:0009261; ORPHA:79256","Xref__c":"ORPHA:79256"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009261","Source__c":"GARD:0010126","Xref__c":"MONDO:0009261"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022186","Xref__c":"423022186"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GLB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/glb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","Feature__r":{"HPO_Description__c":"Spastic paralysis affecting all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002510","HPO_Synonym__c":"Spastic quadriplegia","HPO_Name__c":"Spastic tetraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033044","HPO_Synonym__c":"Regression of motor skills","HPO_Name__c":"Motor regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal thinning of the cortical region of bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002753","HPO_Synonym__c":"Thin cortices","HPO_Name__c":"Thin bony cortex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000160","HPO_Synonym__c":"Microstomia; Narrow mouth; Small mouth; Small oral aperture","HPO_Name__c":"Narrow mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperplasia of the gingiva (that is, a thickening of the soft tissue overlying the alveolar ridge. The degree of thickening ranges from involvement of the interdental papillae alone to gingival overgrowth covering the entire tooth crown.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000212","HPO_Synonym__c":"Gingival enlargement; Gingival hyperplasia; Gum enlargement; Gum hypertrophy; Hypertrophic gingivitis","HPO_Name__c":"Gingival overgrowth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008479","HPO_Synonym__c":"Small vertebrae; Small vertebral bodies; Underdeveloped back bones","HPO_Name__c":"Hypoplastic vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000943","HPO_Name__c":"Dysostosis multiplex","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","Feature__r":{"HPO_Description__c":"A flattened vertebral body shape with reduced distance between the vertebral endplates.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000926","HPO_Synonym__c":"Flat vertebral bodies; Flattened vertebrae; Flattened vertebral bodies","HPO_Name__c":"Platyspondyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperconvexity of the thoracolumbar spine producing a rounded or humped appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005619","HPO_Synonym__c":"Thoracolumbar gibbus; Thoracolumbar gibbus deformity","HPO_Name__c":"Thoracolumbar kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","Feature__r":{"HPO_Description__c":"A cessation of the development of a child in the areas of motor skills, speech and language, cognitive skills, and social and/or emotional skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007281","HPO_Synonym__c":"Developmental arrest","HPO_Name__c":"Developmental stagnation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","Feature__r":{"HPO_Description__c":"A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002123","HPO_Synonym__c":"Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures","HPO_Name__c":"Generalized myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","Feature__r":{"HPO_Description__c":"An abnormality of histiocytes, in which the cells take on a sea blue appearance due to abnormally increased lipid content. Histiocytes are a type of macrophage. Sea-blue histiocytes are typically large macrophages from 20 to 60 micrometers in diameter with a single eccentric nucleus whose cytoplasm if packed with sea-blue or blue-green granules when stained with Wright-Giemsa.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001982","HPO_Synonym__c":"Sea-blue histiocyte","HPO_Name__c":"Sea-blue histiocytosis","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anterior tongue-like protrusions of the vertebral bodies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004568","HPO_Synonym__c":"anterior beaking; Anterior beaking of vertebrae; Anterior beaking of vertebral bodies; Beaked vertebral bodies; Vertebral tongue-like protrusion","HPO_Name__c":"Beaking of vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007272","HPO_Synonym__c":"Progressive mental and motor deterioration","HPO_Name__c":"Progressive psychomotor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","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":"OMIM:230600","Feature__r":{"HPO_Description__c":"Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002673","HPO_Synonym__c":"Valgus hip","HPO_Name__c":"Coxa valga","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormally decreased rate of beta-galactosidase activity. Beta-galactosidase activity can be measured in leukocyte, fibroblast, or plasma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008166","HPO_Synonym__c":"Beta-galactosidase deficiency in fibroblasts and white blood cells; Beta-galactosidase-1 deficiency; Decreased beta galactosidase activity","HPO_Name__c":"Decreased beta-galactosidase activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The birth of a baby of less than 37 weeks of gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001622","HPO_Synonym__c":"Premature birth; Premature delivery; Premature delivery of affected infants; Preterm birth; Preterm delivery; Shortened gestation time","HPO_Name__c":"Premature birth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001643","HPO_Synonym__c":"Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus","HPO_Name__c":"Patent ductus arteriosus","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Tongue extending beyond the alveolar ridges or teeth at rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010808","HPO_Synonym__c":"Lingual prolapse; Lingual prominence; Lingual protrusion; Prolapse of tongue; Prominent tongue; Protruding tongue; Tongue protrusion; Tongue sticking out of mouth","HPO_Name__c":"Protruding tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:230600","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001387","HPO_Synonym__c":"Joint stiffness; Stiff joint; Stiff joints","HPO_Name__c":"Joint stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Lysosomal"],"Specialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Epilepsy","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Lysosomal","Epilepsy"]},"synonyms":["gangliosidosis, generalized gm1, juvenile type"," gangliosidosis, generalized gm1, type 2"," gangliosidosis, generalized gm1, type ii"," gm1 gangliosidosis type ii"," gm1 gangliosidosis, type 2"," gm1-gangliosidosis, type ii"," juvenile gm>1< gangliosidosis"," juvenile gm1 gangliosidosis"," late-infantile gm1 gangliosidosis"]}