cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism
MONDO:0859229Mondo
Findings
No curated finding names cerebellar dysfunction, impaired intellectual development, and hypogonadotropic hypogonadism 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
- Infantile onset
HPO, annotations 2026-09-02
Features
26 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.
- Broad-based gaitHPOHP:0002136
- 3 of 3 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients · Male
- Decreased circulating follicle stimulating hormone concentrationHPOHP:0030341
- 3 of 3 reported patients
- Decreased circulating luteinizing hormone levelHPOHP:0030344
- 3 of 3 reported patients
- Delayed pubertyHPOHP:0000823
- 3 of 3 reported patients
- DysdiadochokinesisHPOHP:0002075
- 3 of 3 reported patients
- DysmetriaHPOHP:0001310
- 3 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- MicropenisHPOHP:0000054
- 2 of 2 reported patients · Male
- ScoliosisHPOHP:0002650
- 3 of 3 reported patients
Show the remaining 14
- Cerebellar hypoplasiaHPOHP:0001321
- 2 of 3 reported patients
- HyporeflexiaHPOHP:0001265
- 2 of 3 reported patients
- Motor delayHPOHP:0001270
- 2 of 3 reported patients
- EpicanthusHPOHP:0000286
- 1 of 3 reported patients
- Gait ataxiaHPOHP:0002066
- 1 of 3 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 3 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.
- PRDM13HGNC:13998
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of