Details of Disease

General Information of Disease (ID: DISVNPZ3)

• Disease Name: Microcephalic primordial dwarfism, Alazami type
• Synonyms: facial dysmorphism, intellectual disability, and primordial dwarfism; ALAZS; Alazami syndrome
• Definition: Microcephalic primordial dwarfism, Alazami type is a rare, genetic developmental defect during embryogenesis syndrome characterized by severe intellectual disability, distinct dysmorphic facial features (i.e. 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 (height below -3.5 SD) to a milder phenotype with less severe growth restriction (height below -2.5 SD). Other reported features include skeletal findings (e.g. scoliosis), microcephaly, involuntary hand movements, hypersensitivity to stimuli and behavioral problems, such as anxiety.
• Disease Hierarchy:
  DISZ93BO: Primordial dwarfism and slender bone disorder
  DIS6SVEE: Syndromic disease
  DISVNPZ3: Microcephalic primordial dwarfism, Alazami type
• Disease Identifiers:
  MONDO ID: MONDO_0014031
  UMLS CUI: C3554439
  OMIM ID: 615071
  MedGen ID: 767353
  Orphanet ID: 319671
  SNOMED CT ID: 770564004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LARP7	OTLLOZTL	Definitive	Autosomal recessive	[1]

References

• [1] Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features. J Hum Genet. 2016 Mar;61(3):229-33. doi: 10.1038/jhg.2015.134. Epub 2015 Nov 26.