Sifrim Hitz Weiss syndrome

disorder

SNOMED 1332510002CUI C4310688

Overview

Sifrim Hitz Weiss syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cognitive delay

Always present (100%)HP:0001263

Dilated cerebral ventricle

Always present (100%)HP:0002119

Mental-retardation

Always present (100%)HP:0001249

Short penis

Always present (100%)HP:0000054

Central hypotonia

Very frequent (80-99%)HP:0001252

Deafness

Very frequent (80-99%)HP:0000365

Increased size of skull

Very frequent (80-99%)HP:0000256

Atria septal defect

Frequent (30-79%)HP:0001631

Cryptorchidism

Frequent (30-79%)HP:0000028

Fused neck

Frequent (30-79%)HP:0002949

Low gonadotropins (secondary hypogonadism)

Frequent (30-79%)HP:0000044

PDA

Frequent (30-79%)HP:0001643

Tetrology of fallot

Frequent (30-79%)HP:0001636

VSD

Frequent (30-79%)HP:0001629

Abnormality of balance

Occasional (5-29%)HP:0002141

Aortic coarctation

Occasional (5-29%)HP:0001680

Chiari malformation

Occasional (5-29%)HP:0002308

Decreased body height

Occasional (5-29%)HP:0004322

Extra bones within cranial sutures

Occasional (5-29%)HP:0002645

Hypoplasia of foramen magnum

Occasional (5-29%)HP:0002677

Renal failure in adulthood

Occasional (5-29%)HP:0000083

Short clavicles

Occasional (5-29%)HP:0000894

Uvula bifida

Occasional (5-29%)HP:0000193

Abnormal curving of the cornea or lens of the eye

HP:0000483

Acetabular angle flat

HP:0003180

Ambiguous external genitalia

HP:0000062

Anteriorly displaced anus

HP:0001545

Eye drop

HP:0000508

Hypoplastic femoral neck

HP:0100864

Increased distance between eyes

HP:0000316

Related Conditions

Autosomal dominant hereditary disorder(parent)

Slow to talk(parent)

Developmental hereditary disorder(parent)

Multiple system malformation syndrome(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1332510002
UMLS CUI: C4310688
Fully Specified Name: Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.