neurodevelopmental disorder with poor growth and behavioral abnormalities
MONDO:0859377Mondo
Findings
No curated finding names neurodevelopmental disorder with poor growth and behavioral abnormalities 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 · Childhood onset
HPO, annotations 2026-09-02
Features
36 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.
- Absent speechHPOHP:0001344
- 3 of 3 reported patients
- Aggressive behaviorHPOHP:0000718
- 2 of 2 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 6 of 6 reported patients
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- IncoordinationHPOHP:0002311
- 3 of 3 reported patients
- Motor delayHPOHP:0001270
- 6 of 6 reported patients
- Motor stereotypyHPOHP:0000733
- 1 of 1 reported patient
- Muscle weaknessHPOHP:0001324
- 3 of 3 reported patients
- Nausea and vomitingHPOHP:0002017
- 3 of 3 reported patients
Show the remaining 24
- Poor fine motor coordinationHPOHP:0007010
- 6 of 6 reported patients
- Postnatal growth retardationHPOHP:0008897
- 3 of 3 reported patients
- Receptive language delayHPOHP:0010863
- 3 of 3 reported patients
- Short attention spanHPOHP:0000736
- 3 of 3 reported patients
- Smooth philtrumHPOHP:0000319
- 3 of 3 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 3 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.
- ATP9AHGNC:13540
- Strong · Ambry Genetics · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · G2P · Autosomal recessive · 2025