neurodevelopmental disorder with speech delay and variable ocular anomalies
MONDO:0859272Mondo
Findings
No curated finding names neurodevelopmental disorder with speech delay and variable ocular anomalies 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
22 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
- 10 of 10 reported patients
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- Intellectual disabilityHPOHP:0001249
- 12 of 12 reported patients
- Hearing impairmentHPOHP:0000365
- 6 of 8 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 6 of 11 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 10 reported patients
- Short statureHPOHP:0004322
- 3 of 10 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 7 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- EpicanthusHPOHP:0000286
- Frontal bossingHPOHP:0002007
- HypertelorismHPOHP:0000316
Show the remaining 10
- Low-set earsHPOHP:0000369
- Mandibular prognathiaHPOHP:0000303
- PtosisHPOHP:0000508
- ScaphocephalyHPOHP:0030799
- Short columellaHPOHP:0002000
- Smooth philtrumHPOHP:0000319
- Sparse eyebrowHPOHP:0045075
- Sparse hairHPOHP:0008070
- Thin upper lip vermilion
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.
- THUMPD1HGNC:23807
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
- Moderate · G2P · Autosomal recessive · 2022