{"Name":"Paternal 20q13.2q13.3 microdeletion syndrome","DiseaseID__c":"GARD:0020777","id":20777,"encodedName":"paternal-20q132q133-microdeletion-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Paternal 20q13.2q13.3 microdeletion syndrome","Xref_IDs__c":"724070005; C4510306; MEDGEN:1390091; MONDO:0016842; ORPHA:261304","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016842","Disease_Description__c":"Paternal 20q13.2q13.3 microdeletion syndrome is a recently described syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.","GARD_Name__c":"Paternal 20q13.2q13.3 microdeletion syndrome","GARD_Synonym__c":"paternal 20q13.2-q13.3 microdeletion syndrome; paternal del(20)(q13.2q13.3); paternal monosomy 20q13.2-q13.3; paternal monosomy 20q13.2q13.3","Curated_Disease_Description_Source__c":"ORPHA:261304","Curated_Disease_Description__c":"Paternal 20q13.2q13.3 microdeletion syndrome syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:261304","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016842","ORPHANET_ID__c":"ORPHA:261304","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microdeleción paterna 20q13","Spanish_Description_Source__c":"ORPHA:261304","Spanish_Description__c":"El síndrome de microdeleción 20q13.2q13.3 paterna es un síndrome descrito recientemente caracterizado por un retraso en el crecimiento pre- y post-natal grave, microcefalia, dificultades en la alimentación intratables, retraso psicomotor leve, hipotonía y dismorfismo facial.","Spanish_Disease_Name__c":"síndrome de microdeleción paterna 20q13","Spanish_GARD_Synonym__c":"del(20)(q13.2q13.3) paterna; monosomía paterna 20q13.2q13.3","Category_Linearization__c":"ORPHA:93890","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":"Paternal 20q13.2q13.3 microdeletion syndrome syndrome characterized by severe pre- and post-natal growth retardation, microcephaly, intractable feeding difficulties, mild psychomotor retardation, hypotonia and facial dysmorphism.","Curated_Disease_Description_Source__c":"ORPHA:261304","GARD_Synonym__c":"paternal 20q13.2-q13.3 microdeletion syndrome; paternal del(20)(q13.2q13.3); paternal monosomy 20q13.2-q13.3; paternal monosomy 20q13.2q13.3","Name":"Paternal 20q13.2q13.3 microdeletion syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"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":"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:261304"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:261304"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1390091","Source__c":"C4510306","Xref__c":"MEDGEN:1390091"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=724070005","Source__c":"C4510306; MONDO:0016842","Xref__c":"724070005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4510306","Source__c":"C4510306","Xref__c":"C4510306"},{"URL__c":"https://www.orpha.net/en/disease/detail/261304","Source__c":"C4510306; MONDO:0016842; ORPHA:261304","Xref__c":"ORPHA:261304"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016842","Source__c":"GARD:0020777","Xref__c":"MONDO:0016842"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased height of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000348","HPO_Synonym__c":"High forehead","HPO_Name__c":"High forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced density of hairs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008070","HPO_Synonym__c":"Decreased hair growth; Decreased hair growth on body; Hypotrichosis; Marked hypotrichosis; Sparse hair; Sparse hair since birth","HPO_Name__c":"Sparse hair","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000316","HPO_Synonym__c":"Excessive orbital separation; Increased distance between eye sockets; Increased distance between eyes; Increased interpupillary distance; Ocular hypertelorism; Wide-set eyes; Widely spaced eyes; Widened interpupillary distance","HPO_Name__c":"Hypertelorism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the eyebrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100840","HPO_Synonym__c":"Absence of eyebrow; Agenesis of eyebrow; Hypotrophic eyebrow; Lack of eyebrow; Missing eyebrow","HPO_Name__c":"Aplasia/Hypoplasia of the eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of skin color related to a decrease in melanin production and deposition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001010","HPO_Synonym__c":"Hypopigmentation; Hypopigmented skin; Patchy lightened skin","HPO_Name__c":"Hypopigmentation of the skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diminished amniotic fluid volume in pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001562","HPO_Synonym__c":"Low levels of amniotic fluid; Maternal oligohydramnios","HPO_Name__c":"Oligohydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A moderate 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:0011343","HPO_Synonym__c":"Global developmental delay, moderate","HPO_Name__c":"Moderate global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Skin dimples are cutaneous indentations that are the result of tethering of the skin to underlying structures (bone) causing an indentation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010781","HPO_Synonym__c":"Skin dimples","HPO_Name__c":"Skin dimple","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Localized loss of fat tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100578","HPO_Synonym__c":"Atrophy of fat; Loss of fat tissue in localized area","HPO_Name__c":"Lipoatrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002098","HPO_Synonym__c":"Breathing difficulties; Labored breathing; Respiratory difficulties","HPO_Name__c":"Respiratory distress","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","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":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction in thickness of the skin, generally associated with a loss of suppleness and elasticity of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000963","HPO_Synonym__c":"Thin skin","HPO_Name__c":"Thin skin","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An eye that is more deeply recessed into the plane of the face than is typical.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000490","HPO_Synonym__c":"Deep set eye; Deep-set eyes; Deeply set eye; Enophthalmos; Ocular depression; Sunken eye; Sunken eyes","HPO_Name__c":"Deeply set eye","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Height of the vermilion of the medial part of the lip more than 2 SD below the mean, or apparently reduced height of the vermilion of the lip in the frontal view. The vermilion is the red part of the lips (and confusingly, the vermilion itself is also often referred to as being equivalent the lips).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000233","HPO_Synonym__c":"Decreased volume of lip; Decreased volume of lip vermillion; Thin lips; Thin vermillion","HPO_Name__c":"Thin vermilion border","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000322","HPO_Synonym__c":"Decreased height of philtrum; Decreased length of philtrum; Decreased vertical dimension of philtrum; Vertical hypoplasia of philtrum","HPO_Name__c":"Short philtrum","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:261304","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["paternal 20q13.2-q13.3 microdeletion syndrome"," paternal del(20)(q13.2q13.3)"," paternal monosomy 20q13.2-q13.3"," paternal monosomy 20q13.2q13.3"]}