{"id":"http://purl.bioontology.org/ontology/SNOMEDCT/770564004","synonym":["Microcephalic primordial dwarfism Alazami type (disorder)","Alazami syndrome"],"notation":"770564004","semanticType":["http://purl.bioontology.org/ontology/STY/T047"],"cui":["C3554439"],"prefLabel":"Microcephalic primordial dwarfism Alazami type","definition":["A rare genetic developmental defect during embryogenesis syndrome with characteristics of severe intellectual disability, distinct dysmorphic facial features (including triangular face with prominent forehead, narrow palpebral fissures, deep-set eyes, low-set ears, broad nose, malar hypoplasia, short philtrum, macrostomia, widely spaced teeth) and pre and postnatal proportionate short stature, ranging from primordial dwarfism to a milder phenotype with less severe growth restriction. Other reported features include skeletal findings (for example scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and anxiety. There is evidence this disease is caused by homozygous or compound heterozygous mutation in the LARP7 gene on chromosome 4q25.","A rare form of primordial dwarfism, often microcephalic, characterised by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth).","A rare form of primordial dwarfism, often microcephalic, characterized by short stature, global developmental delay, variable intellectual disability and recognizable dysmorphic facial features (triangular face, prominent forehead, deeply set eyes, low-set ears, wide nose, malar hypoplasia, wide mouth, thick lips, and widely spaced teeth)."],"subClassOf":["http://purl.bioontology.org/ontology/SNOMEDCT/363070008","http://purl.bioontology.org/ontology/SNOMEDCT/85995004","http://purl.bioontology.org/ontology/SNOMEDCT/1148758003","http://purl.bioontology.org/ontology/SNOMEDCT/65094009","http://purl.bioontology.org/ontology/SNOMEDCT/1362108000","http://purl.bioontology.org/ontology/SNOMEDCT/237837007"],"parents":[{"id":"http://purl.bioontology.org/ontology/SNOMEDCT/363070008","synonym":["Developmental hereditary disorder (disorder)"],"notation":"363070008","semanticType":["http://purl.bioontology.org/ontology/STY/T046"],"cui":["C1285243"],"prefLabel":"Developmental hereditary 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It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision 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