neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech
MONDO:0980699Mondo
Findings
No curated finding names neurodevelopmental disorder with growth impairment, quadriparesis, and poor or absent speech 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
- Neonatal onset · Fetal onset
HPO, annotations 2026-09-02
Features
128 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.
- Abnormal electroretinogramHPOHP:0000512
- 1 of 1 reported patient
- Abnormal visual fixationHPOHP:0025404
- 1 of 1 reported patient
- Abnormality of the dentitionHPOHP:0000164
- 5 of 5 reported patients
- Absent speechHPOHP:0001344
- 11 of 11 reported patients
- AgitationHPOHP:0000713
- 2 of 2 reported patients
- Ankle contractureHPOHP:0034677
- 5 of 5 reported patients
- Aspiration pneumoniaHPOHP:0011951
- 1 of 1 reported patient
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 6 of 6 reported patients
- Broad foreheadHPOHP:0000337
- 1 of 1 reported patient
- CamptodactylyHPOHP:0012385
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 12 of 12 reported patients
Show the remaining 116
- Cerebral visual impairmentHPOHP:0100704
- 5 of 5 reported patients
- Choking episodesHPOHP:0030842
- 1 of 1 reported patient
- Coarse facial featuresHPOHP:0000280
- 3 of 3 reported patients
- Dandy-Walker malformationHPOHP:0001305
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 18 of 18 reported patients