microcephalic primordial dwarfism, Alazami type
Findings
No curated finding names microcephalic primordial dwarfism, Alazami type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0014031), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Deeply set eyeHPOHP:0000490
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- 9 of 9 reported patients
- Short philtrumHPOHP:0000322
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
- Triangular faceHPOHP:0000325
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LARP7HGNC:24912
- Definitive · G2P · Autosomal recessive · 2016
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: microcephalic primordial dwarfism, Alazami type
- Also called
- Alazami syndrome