TELO2-related intellectual disability-neurodevelopmental disorder
MONDO:0014848Mondo
Findings
No curated finding names TELO2-related intellectual disability-neurodevelopmental disorder 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
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
64 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.
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 6 of 6 reported patients
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Gait imbalanceHPOHP:0002141
- Very frequent (80% to 99% of cases)
- Primary microcephalyHPOHP:0011451
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Cerebral visual impairmentHPOHP:0100704
- 4 of 6 reported patients
- Frequent (30% to 79% of cases)
- ClinodactylyHPOHP:0030084
- 4 of 6 reported patients
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- 4 of 6 reported patients
- 4-5 toe syndactylyHPOHP:0004692
- Frequent (30% to 79% of cases)
Show the remaining 52
- Abnormal morphology of the great vesselsHPOHP:0030962
- Frequent (30% to 79% of cases)
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
- Absent speechHPOHP:0001344
- 1 of 6 reported patients
- Frequent (30% to 79% of cases)
- BrachydactylyHPOHP:0001156
- 3 of 6 reported patients
- Frequent (30% to 79% of cases)
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Floppy infantHPOHP:0008947
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.
- TELO2HGNC:29099
- Definitive · ClinGen · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2016
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- central nervous system malformation
- congenital limb malformation
- congenital nervous system disorder
- hereditary neurological disease
- multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- partial monosomy of the long arm of chromosome 9
Other names
1 name
Resolves to: TELO2-related intellectual disability-neurodevelopmental disorder
- Also called
- you-Hoover-Fong syndrome