neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity
MONDO:0032887Mondo
Findings
No curated finding names neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity 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
17 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.
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 8 of 8 reported patients · Infantile onset
- Global developmental delayHPOHP:0001263
- 22 of 22 reported patients
- HyperreflexiaHPOHP:0001347
- 8 of 8 reported patients
- HypertoniaHPOHP:0001276
- 8 of 8 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 6 of 6 reported patients
- LissencephalyHPOHP:0001339
- 6 of 6 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 8 of 8 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 8 of 8 reported patients
- VentriculomegalyHPOHP:0002119
- 6 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 19 of 21 reported patients
- SeizureHPOHP:0001250
- 12 of 14 reported patients
- Cerebellar atrophyHPOHP:0001272
- 3 of 6 reported patients
Show the remaining 5
- Hypoplasia of the brainstemHPOHP:0002365
- 3 of 6 reported patients
- PolymicrogyriaHPOHP:0002126
- 5 of 13 reported patients
- Cerebral atrophyHPOHP:0002059
- 4 of 13 reported patients
- PachygyriaHPOHP:0001302
- 2 of 13 reported patients
- Cerebral white matter hypoplasiaHPOHP:0012430
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.
- TMX2HGNC:30739
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2020
- Moderate · Ambry Genetics · Autosomal recessive · 2020