{"Name":"Neuronal ceroid lipofuscinosis 10","DiseaseID__c":"GARD:0001218","id":1218,"encodedName":"neuronal-ceroid-lipofuscinosis-10","IsDeleted":false,"Disease_Name_Full__c":"Neuronal ceroid lipofuscinosis 10","Xref_IDs__c":"720831008; C1864669; C566438; DOID:0110725; MEDGEN:350481; MONDO:0012414; OMIM:610127; ORPHA:228337","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0012414","Disease_Description__c":"A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.","GARD_Name__c":"Neuronal ceroid lipofuscinosis 10","GARD_Synonym__c":"cathepsin d deficiency; cathepsin d deficient neuronal ceroid lipofuscinosis; ceroid lipofuscinosis, neuronal, type 10; cln10; cln10 disease; cln10-ncl; ctsd neuronal ceroid lipofuscinosis; ctsd-related neuronal ceroid-lipofuscinosis; neuronal ceroid lipofuscinosis cathepsin d-deficient; neuronal ceroid lipofuscinosis caused by mutation in ctsd; neuronal ceroid lipofuscinosis due to cathepsin d deficiency; neuronal ceroid lipofuscinosis due to deficiency of cathepsin d; neuronal ceroid lipofuscinosis type 10","Curated_Disease_Description_Source__c":"GARD:0001218","Curated_Disease_Description__c":"Neuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Signs and symptoms of CLN10 usually appear soon after birth. They may include muscle stiffness, respiratory failure, and seizures that last several minutes (status epilepticus). Infants with CLN10 disease have a small brain and small head (microcephaly). They also have problems controlling their movements. The areas of the brain involved in thinking and emotions are also severely affected. In some cases, people with CLN10 disease do not develop symptoms until later in infancy, childhood, or adulthood. Symptoms in these cases may be more gradual and include ataxia, loss of speech and vision, and problems with memory and thinking (cognitive impairment). The lifespan of people diagnosed after early infancy is also shortened, but varies based on when their symptoms began. CLN10 disease is caused by changes in the CTSD gene and inheritance is autosomal recessive. If the disease-causing genetic change completely prevents the CLN10 protein (cathepsin D) from being made, the infant will be born with the severe type. If however, some working CLN2 protein is made, the person will develop either the late infantile, juvenile, or adult type.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:228337","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012414","ORPHANET_ID__c":"ORPHA:228337","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad cln10","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad cln10","Spanish_GARD_Synonym__c":"lipofuscinosis ceroidea neuronal tipo 10; ncl10","Category_Linearization__c":"ORPHA:98006","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":"Neuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Signs and symptoms of CLN10 usually appear soon after birth. They may include muscle stiffness, respiratory failure, and seizures that last several minutes (status epilepticus). Infants with CLN10 disease have a small brain and small head (microcephaly). They also have problems controlling their movements. The areas of the brain involved in thinking and emotions are also severely affected. In some cases, people with CLN10 disease do not develop symptoms until later in infancy, childhood, or adulthood. Symptoms in these cases may be more gradual and include ataxia, loss of speech and vision, and problems with memory and thinking (cognitive impairment). The lifespan of people diagnosed after early infancy is also shortened, but varies based on when their symptoms began. CLN10 disease is caused by changes in the CTSD gene and inheritance is autosomal recessive. If the disease-causing genetic change completely prevents the CLN10 protein (cathepsin D) from being made, the infant will be born with the severe type. If however, some working CLN2 protein is made, the person will develop either the late infantile, juvenile, or adult type.","Curated_Disease_Description_Source__c":"GARD:0001218","GARD_Synonym__c":"cathepsin d deficiency; cathepsin d deficient neuronal ceroid lipofuscinosis; ceroid lipofuscinosis, neuronal, type 10; cln10; cln10 disease; cln10-ncl; ctsd neuronal ceroid lipofuscinosis; ctsd-related neuronal ceroid-lipofuscinosis; neuronal ceroid lipofuscinosis cathepsin d-deficient; neuronal ceroid lipofuscinosis caused by mutation in ctsd; neuronal ceroid lipofuscinosis due to cathepsin d deficiency; neuronal ceroid lipofuscinosis due to deficiency of cathepsin d; neuronal ceroid lipofuscinosis type 10","Name":"Neuronal ceroid lipofuscinosis 10","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Brain Disease Foundation","Website__c":"https://childrensbraindiseasesfoundation.org/"},{"Account_Name__c":"BDSRA Foundation","Website__c":"https://bdsrafoundation.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":"Psychiatry","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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:228337"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:228337"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:228337"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001218","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110725","Source__c":"MONDO:0012414","Xref__c":"DOID:0110725"},{"URL__c":"https://www.omim.org/entry/610127","Source__c":"C1864669; MONDO:0012414; ORPHA:228337","Xref__c":"OMIM:610127"},{"URL__c":"https://www.orpha.net/en/disease/detail/228337","Source__c":"C1864669; MONDO:0012414","Xref__c":"ORPHA:228337"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566438","Source__c":"MONDO:0012414","Xref__c":"C566438"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720831008","Source__c":"MONDO:0012414","Xref__c":"720831008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=350481","Source__c":"C1864669","Xref__c":"MEDGEN:350481"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864669","Source__c":"C1864669","Xref__c":"C1864669"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012414","Source__c":"GARD:0001218","Xref__c":"MONDO:0012414"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720830009","Source__c":"C1864669","Xref__c":"720830009"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1428","Source__c":"Gene Review","Xref__c":"NBK1428"},{"URL__c":"https://medlineplus.gov/genetics/condition/cln10-disease","Source__c":"GARD:0001218","Xref__c":"https://medlineplus.gov/genetics/condition/cln10-disease"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CTSD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ctsd","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","Feature__r":{"HPO_Description__c":"Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002074","HPO_Name__c":"Increased neuronal autofluorescent lipopigment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002529","HPO_Synonym__c":"Loss of brain cells; Neuronal loss; Neuronal loss in CNS","HPO_Name__c":"Neuronal loss in central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","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":"OMIM:610127","HPO_Frequency__c":"Very frequent (80-99%)","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:610127","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An axonal neuropathy of peripheral sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003390","HPO_Synonym__c":"Axonal sensory neuropathy","HPO_Name__c":"Sensory axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001171","HPO_Synonym__c":"Ectrodactyly of the hand; Hand ectrodactyly; Split hand; Split-hand","HPO_Name__c":"Split hand","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Very frequent (80-99%)","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:610127","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000340","HPO_Synonym__c":"Inclined forehead; Posteriorly sloping forehead; Receding forehead; Sloping forehead","HPO_Name__c":"Sloping forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A nonspecific term denoting wasting, especially as a result of degeneration, of the retinal pigment epithelium (RPE) and neurosensory retinal cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001105","HPO_Name__c":"Retinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002093","HPO_Synonym__c":"Respiratory impairment","HPO_Name__c":"Respiratory insufficiency","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000510","HPO_Synonym__c":"Retinitis pigmentosa; Rod cone dystrophy","HPO_Name__c":"Rod-cone dystrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003657","HPO_Synonym__c":"Granular osmiophilic deposits (GROD) in cells","HPO_Name__c":"Vascular granular osmiophilic material deposition","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002878","HPO_Synonym__c":"Respiratory failure","HPO_Name__c":"Respiratory failure","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A myoclonic seizure is a type of motor seizure characterized by 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:0032794","HPO_Name__c":"Myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of previously present mental abilities, generally in adults.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001268","HPO_Synonym__c":"Cognitive decline; Cognitive decline, progressive; Intellectual deterioration; Mental deterioration; Progressive cognitive decline","HPO_Name__c":"Mental deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","Feature__r":{"HPO_Description__c":"Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002133","HPO_Synonym__c":"Prolonged seizure; Repeated seizure without recovery; Repeated seizures without recovery between them","HPO_Name__c":"Status epilepticus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","Feature__r":{"HPO_Description__c":"Normally, the posterior and lateral fontanelles are obliterated by about six months after birth, the anterior fontanelle closes by about the middle of the second year. This term refers to the situation in which the fontanelles close at an inappropriately early time point.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005458","HPO_Synonym__c":"Early closure of the fontanelles; Obliterated fontanelles; Premature fontanel closure","HPO_Name__c":"Premature closure of fontanelles","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased breadth of the nasal bridge (and with it, the nasal root).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000431","HPO_Synonym__c":"Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge","HPO_Name__c":"Wide nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002104","HPO_Synonym__c":"Absence of spontaneous respiration; Apneic episodes; Apnoea","HPO_Name__c":"Apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:610127","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:610127","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:610127","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous 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","Psychiatry","Retinal","Epilepsy","Pediatrics"],"Account":["Lysosomal","Retinal","Epilepsy"]},"synonyms":["cathepsin d deficiency"," cathepsin d deficient neuronal ceroid lipofuscinosis"," ceroid lipofuscinosis, neuronal, type 10"," cln10"," cln10 disease"," cln10-ncl"," ctsd neuronal ceroid lipofuscinosis"," ctsd-related neuronal ceroid-lipofuscinosis"," neuronal ceroid lipofuscinosis cathepsin d-deficient"," neuronal ceroid lipofuscinosis caused by mutation in ctsd"," neuronal ceroid lipofuscinosis due to cathepsin d deficiency"," neuronal ceroid lipofuscinosis due to deficiency of cathepsin d"," neuronal ceroid lipofuscinosis type 10"]}