Sifrim-Hitz-Weiss syndrome
Findings
No curated finding names Sifrim-Hitz-Weiss syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare multiple congenital anomalies/dysmorphic syndrome due to CHD4 gene mutations. It is characterized by developmental delay, speech delay and variable degree of intellectual disability (mostly mid-to-moderate but some patients may also have normal intelligence). Even though clinical manifestations are significantly variable among patients, most patients manifest dysmorphic facial features (could sometimes include macrocephaly), congenital heart defects, hypotonia and opthalmologic abnormalities. Other clinical features may include brain structure anomalies, skeletal anomalies, hearing impairment and hypogonadism (only in males).
Definition from the Mondo Disease Ontology (MONDO:0014946), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
34 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.
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 5 of 5 reported patients
- MicropenisHPOHP:0000054
- 3 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 5 of 5 reported patients
- Hearing impairmentHPOHP:0000365
- 4 of 5 reported patients
- HypotoniaHPOHP:0001252
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.
- CHD4HGNC:1919
- Definitive · G2P · Autosomal dominant · 2016
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
3 names
Resolves to: Sifrim-Hitz-Weiss syndrome
- Also called
- CHD4-related neurodevelopmental disorderSifrim-Hitz-Weiss syndrome; SIHIWESSIHIWES