Basilicata-Akhtar syndrome
MONDO:0026730Mondo
Findings
No curated finding names Basilicata-Akhtar syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked dominant inheritance
HPO, annotations 2026-09-02
Features
42 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 ability to walkHPOHP:0031936
- 16 of 16 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 16 of 16 reported patients
- Global developmental delayHPOHP:0001263
- 16 of 16 reported patients
- Intellectual disabilityHPOHP:0001249
- 12 of 12 reported patients
- Neonatal hypoglycemiaHPOHP:0001998
- 14 of 16 reported patients · Neonatal onset
- Feeding difficultiesHPOHP:0011968
- 13 of 15 reported patients
- Generalized hypotoniaHPOHP:0001290
- 13 of 16 reported patients
- Abnormal pinna morphologyHPOHP:0000377
- 12 of 16 reported patients
- TelecanthusHPOHP:0000506
- 11 of 16 reported patients
- Atypical behaviorHPOHP:0000708
- 9 of 14 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 10 of 16 reported patients
- Progressive spasticityHPOHP:0002191
- 10 of 16 reported patients
Show the remaining 30
- Chronic constipationHPOHP:0012450
- 9 of 16 reported patients
- Downturned corners of mouthHPOHP:0002714
- 9 of 16 reported patients
- EpicanthusHPOHP:0000286
- 9 of 16 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 8 of 16 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 8 of 16 reported patients
- Absent speechHPOHP:0001344
- 6 of 13 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.
- MSL3HGNC:7370
- Definitive · ClinGen · X-linked · 2022
- Definitive · G2P · X-linked · 2016
- Strong · Ambry Genetics · X-linked · 2018
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: Basilicata-Akhtar syndrome
- Also called
- Basilicata-Akhtar syndrome, X-linked dominant