intellectual developmental disorder, autosomal recessive 72
MONDO:0032860Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal recessive 72 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
23 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.
- Delayed speech and language developmentHPOHP:0000750
- 6 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 7 of 7 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 7 of 7 reported patients
- Decreased body weightHPOHP:0004325
- 3 of 5 reported patients
- Aggressive behaviorHPOHP:0000718
- 4 of 7 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 7 reported patients
- MacrotiaHPOHP:0000400
- 3 of 7 reported patients
- SpasticityHPOHP:0001257
- 2 of 5 reported patients
- Autistic behaviorHPOHP:0000729
- 2 of 7 reported patients
- Broad nasal tipHPOHP:0000455
- 2 of 7 reported patients
- Long philtrumHPOHP:0000343
- 2 of 7 reported patients
- Low-set earsHPOHP:0000369
- 2 of 7 reported patients
Show the remaining 11
- Narrow nasal baseHPOHP:0012809
- 2 of 7 reported patients
- Overhanging nasal tipHPOHP:0011833
- 2 of 7 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 2 of 7 reported patients
- Prominent noseHPOHP:0000448
- 2 of 7 reported patients
- StrabismusHPOHP:0000486
- 2 of 7 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 2 of 7 reported patients
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.
- METTL5HGNC:25006
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2019