{"Name":"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome","DiseaseID__c":"GARD:0017709","id":17709,"encodedName":"x-linked-colobomatous-microphthalmia-microcephaly-intellectual-disability-short-stature-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome","Xref_IDs__c":"C3806742; DOID:0111811; MEDGEN:813072; MONDO:0010485; OMIM:300915; ORPHA:431140","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010485","Disease_Description__c":"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.","GARD_Name__c":"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome","GARD_Synonym__c":"colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation; maine microphthalmos; microphthalmia, syndromic 13; microphthalmia, syndromic type 13; x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome","Curated_Disease_Description_Source__c":"MONDO:0010485","Curated_Disease_Description__c":"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.","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:431140","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010485","ORPHANET_ID__c":"ORPHA:431140","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microftalmia colobomatosa-microcefalia-discapacidad intelectual-talla baja ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:431140","Spanish_Description__c":"Es un trastorno poco frecuente caracterizado por microftalmia con coloboma (que puede afectar al iris, cuerpo ciliar, coroides, retina y/o nervio óptico), microcefalia, talla baja y discapacidad intelectual. También puede presentar otros trastornos oculares, tales como nistagmus pendular, esotropia y ptosis. Otras anomalías adicionales incluyen cifoescoliosis, pabellones auriculares antevertidos con escasos pliegues, diastema en los incisivos y pie varo congénito.","Spanish_Disease_Name__c":"síndrome de microftalmia colobomatosa-microcefalia-discapacidad intelectual-talla baja ligado al cromosoma x","Spanish_GARD_Synonym__c":"síndrome de microftalmia colobomatosa-microcefalia-talla baja-retraso psicomotor ligado al cromosoma x","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":"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome is a rare syndromic microphthalmia disorder characterized by microphthalmia with coloboma (which may involve the iris, cilary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus.","Curated_Disease_Description_Source__c":"MONDO:0010485","GARD_Synonym__c":"colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation; maine microphthalmos; microphthalmia, syndromic 13; microphthalmia, syndromic type 13; x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome","Name":"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"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":"Orthopedics","Tag_Category__c":"Specialist"},{"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":"Antenatal","Provided_By__c":"ORPHA:431140"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:431140"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/431140","Source__c":"C3806742; MONDO:0010485","Xref__c":"ORPHA:431140"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3806742","Source__c":"C3806742","Xref__c":"C3806742"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111811","Source__c":"MONDO:0010485","Xref__c":"DOID:0111811"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=813072","Source__c":"C3806742","Xref__c":"MEDGEN:813072"},{"URL__c":"https://www.omim.org/entry/300915","Source__c":"C3806742; MONDO:0010485; ORPHA:431140","Xref__c":"OMIM:300915"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010485","Source__c":"GARD:0017709","Xref__c":"MONDO:0010485"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HMGB3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of a region of the retina, retinal pigment epithelium, and choroid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000567","HPO_Synonym__c":"Birth defect that causes a hole in the innermost layer at the back of the eye; Choroidoretinal coloboma","HPO_Name__c":"Chorioretinal coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040080","HPO_Name__c":"Anteverted ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary sinusoidal oscillations of one or both eyes. The waveform of pendular nystagmus may occur in any direction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012043","HPO_Name__c":"Pendular nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002751","HPO_Name__c":"Kyphoscoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006304","HPO_Synonym__c":"Anterior diastema of teeth; Gap between front teeth; Widely spaced front teeth","HPO_Name__c":"Widely-spaced incisors","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","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":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:300915","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A developmental anomaly characterized by abnormal smallness of one or both eyes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000568","HPO_Synonym__c":"Abnormally small eyeball; Abnormally small globe of eye; Microphthalmos","HPO_Name__c":"Microphthalmia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300915","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Orthopedics","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation"," maine microphthalmos"," microphthalmia, syndromic 13"," microphthalmia, syndromic type 13"," x-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome"]}