Snijders Blok-Campeau syndrome
MONDO:0032600Mondo
Findings
No curated finding names Snijders Blok-Campeau syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
35 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.
- Delayed speech and language developmentHPOHP:0000750
- 34 of 34 reported patients
- Global developmental delayHPOHP:0001263
- 35 of 35 reported patients
- Intellectual disabilityHPOHP:0001249
- 35 of 35 reported patients
- Speech apraxiaHPOHP:0011098
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 28 of 33 reported patients
- HypertelorismHPOHP:0000316
- 24 of 31 reported patients
- HypotoniaHPOHP:0001252
- 21 of 28 reported patients
- MacrocephalyHPOHP:0000256
- 19 of 31 reported patients
- Joint hypermobilityHPOHP:0001382
- 12 of 30 reported patients
- HypermetropiaHPOHP:0000540
- 11 of 29 reported patients
- Widened cerebral subarachnoid spaceHPOHP:0012766
- 10 of 30 reported patients
- Feeding difficultiesHPOHP:0011968
- 10 of 32 reported patients · Neonatal onset
Show the remaining 23
- StrabismusHPOHP:0000486
- 10 of 33 reported patients
- Autistic behaviorHPOHP:0000729
- 9 of 31 reported patients
- High palateHPOHP:0000218
- 9 of 35 reported patients
- Unsteady gaitHPOHP:0002317
- 5 of 35 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 24 reported patients
- Broad-based gaitHPOHP:0002136
- 4 of 35 reported patients
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.
- CHD3HGNC:1918
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · Illumina · Autosomal dominant · 2021
- Strong · Ambry Genetics · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
- A kind of
Other names
2 names
Resolves to: Snijders Blok-Campeau syndrome
- Also called
- CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndromeintellectual developmental disorder with macrocephaly, speech delay, and dysmorphic facies