macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin
MONDO:0859231Mondo
Findings
No curated finding names macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typically de novo
- Onset and course
- Congenital 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.
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Increased size of nasopharyngeal adenoidsHPOHP:0040261
- 12 of 12 reported patients
- Intellectual disabilityHPOHP:0001249
- 13 of 13 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 1 of 1 reported patient · Neonatal onset
- 1 of 12 reported patients
- Prominent foreheadHPOHP:0011220
- 1 of 1 reported patient
- Sleep apneaHPOHP:0010535
- 1 of 1 reported patient · Infantile onset
- 9 of 11 reported patients
- Umbilical herniaHPOHP:0001537
- 1 of 1 reported patient · Congenital onset
- 3 of 12 reported patients
- MacrocephalyHPOHP:0000256
- 12 of 13 reported patients
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 10 of 11 reported patients
- Motor delayHPOHP:0001270
- 9 of 11 reported patients
- Persistence of hemoglobin FHPOHP:0011904
- 4 of 5 reported patients
Show the remaining 14
- Delayed speech and language developmentHPOHP:0000750
- 10 of 13 reported patients
- OverweightHPOHP:0025502
- 7 of 10 reported patients
- Autistic behaviorHPOHP:0000729
- 7 of 12 reported patients
- Dental crowdingHPOHP:0000678
- 5 of 12 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 4 of 12 reported patients
- AstigmatismHPOHP:0000483
- 3 of 12 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.
- ZBTB7AHGNC:18078
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2026
Where it sits
- A kind of