neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
MONDO:0033562Mondo
Findings
No curated finding names neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia 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
- Death in childhood
HPO, annotations 2026-09-02
Features
49 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
- 7 of 8 reported patients
- Motor delayHPOHP:0001270
- 7 of 8 reported patients
- EEG abnormalityHPOHP:0002353
- 6 of 7 reported patients
- SeizureHPOHP:0001250
- 6 of 9 reported patients
- Severe global developmental delayHPOHP:0011344
- 5 of 9 reported patients
- Chronic constipationHPOHP:0012450
- 3 of 7 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 7 reported patients · Male
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 5 reported patients
- Decreased heart rate variabilityHPOHP:0031861
- 1 of 3 reported patients
- Decreased hemoglobin concentrationHPOHP:0020062
- 3 of 9 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 2 of 6 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 3 of 9 reported patients · Neonatal onset
Show the remaining 37
- Neonatal respiratory distressHPOHP:0002643
- 3 of 9 reported patients · Neonatal onset
- MicropenisHPOHP:0000054
- 2 of 7 reported patients · Male
- Impaired pain sensationHPOHP:0007328
- 2 of 8 reported patients
- Decreased body weightHPOHP:0004325
- 2 of 9 reported patients
- Dental crowdingHPOHP:0000678
- 2 of 9 reported patients
- DolichocephalyHPOHP:0000268
- 2 of 9 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.
- MADDHGNC:6766
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia
- Also called
- neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia