microcephalic osteodysplastic primordial dwarfism type I
MONDO:0008871Mondo
Findings
No curated finding names microcephalic osteodysplastic primordial dwarfism type I yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Congenital onset · Infantile onset · Death in childhood · Antenatal onset
HPO, annotations 2026-09-02
Features
55 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.
- MicrocephalyHPOHP:0000252
- 10 of 10 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 6 of 10 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 6 of 10 reported patients
- PolymicrogyriaHPOHP:0002126
- 4 of 10 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 10 reported patients
- HypertensionHPOHP:0000822
- 2 of 10 reported patients
- Abnormal cortical gyrationHPOHP:0002536
- 1 of 10 reported patients
- Anteverted naresHPOHP:0000463
- 1 of 10 reported patients
- Arachnoid cystHPOHP:0100702
- 1 of 10 reported patients
- Bifid first metacarpalHPOHP:0009616
- 1 of 10 reported patients
- Bowing of the long bonesHPOHP:0006487
- 1 of 10 reported patients
- BrachydactylyHPOHP:0001156
- 1 of 10 reported patients
Show the remaining 43
- Breech presentationHPOHP:0001623
- 1 of 10 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 10 reported patients
- Cerebral hypoplasiaHPOHP:0006872
- 1 of 10 reported patients
- ColpocephalyHPOHP:0030048
- 1 of 10 reported patients
- Delayed epiphyseal ossificationHPOHP:0002663
- 1 of 10 reported patients
- Dry skinHPOHP:0000958
- 1 of 10 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.
- HGNC:34016HGNC:34016
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
9 names
Resolves to: microcephalic osteodysplastic primordial dwarfism type I
- Also called
- brachymelic primordial dwarfismcephaloskeletal dysplasialow-birth-weight dwarfism with skeletal dysplasiamicrocephalic osteodysplastic primordial dwarfism, type 1microcephalic osteodysplastic primordial dwarfism, type IMOPD 1MOPD1osteodysplastic primordial dwarfism, type 1Taybi-Linder syndrome