neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
MONDO:0976265Mondo
Findings
No curated finding names neurodevelopmental disorder with poor growth, seizures, and brain 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
- Infantile onset
HPO, annotations 2026-09-02
Features
96 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient
- AnkyloglossiaHPOHP:0010296
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 3 of 3 reported patients
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- AspirationHPOHP:0002835
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Bilateral single transverse palmar creasesHPOHP:0007598
- 1 of 1 reported patient
- BruxismHPOHP:0003763
- 2 of 2 reported patients
- Bulbous noseHPOHP:0000414
- 2 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- CholestasisHPOHP:0001396
- 1 of 1 reported patient
Show the remaining 84
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- ConstipationHPOHP:0002019
- 1 of 1 reported patient
- Corpus callosum atrophyHPOHP:0007371
- 1 of 1 reported patient
- Cupped earHPOHP:0000378
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Diabetes mellitusHPOHP:0000819
- 1 of 1 reported patient