neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
MONDO:0976126Mondo
Findings
No curated finding names neurodevelopmental disorder with microcephaly, absent 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
- Congenital onset · Adult onset · Childhood onset · Antenatal onset
HPO, annotations 2026-09-02
Features
65 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 facial shapeHPOHP:0001999
- 2 of 2 reported patients
- Absent tibiaHPOHP:0009556
- 1 of 1 reported patient
- Arthrogryposis multiplex congenitaHPOHP:0002804
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 2 of 2 reported patients
- Bifid distal phalanx of the thumbHPOHP:0009611
- 1 of 1 reported patient
- CardiomegalyHPOHP:0001640
- 1 of 1 reported patient
- Central sleep apneaHPOHP:0010536
- 1 of 1 reported patient
- ChoreaHPOHP:0002072
- 1 of 1 reported patient
- Chronic lung diseaseHPOHP:0006528
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- ClinodactylyHPOHP:0030084
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient
Show the remaining 53
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 1 of 1 reported patient
- EctrodactylyHPOHP:0100257
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Enlarged kidneyHPOHP:0000105
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient