neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral abnormalities
MONDO:0976285Mondo
Findings
No curated finding names neurodevelopmental disorder with poor or absent speech, dysmorphic facies, and behavioral 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
- Congenital onset · Infantile onset · Juvenile onset
HPO, annotations 2026-09-02
Features
62 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.
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- Bulbous noseHPOHP:0000414
- 1 of 1 reported patient
- Cafe-au-lait spotHPOHP:0000957
- 1 of 1 reported patient
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 1 reported patient
- Clinodactyly of the 5th fingerHPOHP:0004209
- 1 of 1 reported patient
- Delayed ability to crawlHPOHP:0033128
- 1 of 1 reported patient
- Delayed ability to roll overHPOHP:0032989
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- Ectopic testisHPOHP:6000460
- 1 of 1 reported patient
- Enlarged cisterna magnaHPOHP:0002280
- 1 of 1 reported patient
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 1 of 1 reported patient
- Generalized dystoniaHPOHP:0007325
- 2 of 2 reported patients
Show the remaining 50
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 14 of 14 reported patients
- High palateHPOHP:0000218
- 1 of 1 reported patient
- Highly arched eyebrowHPOHP:0002553
- 1 of 1 reported patient
- Hyperplasia of midfaceHPOHP:0012371
- 3 of 3 reported patients
- HyporeflexiaHPOHP:0001265
- 1 of 1 reported patient