Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome

disorder

SNOMED 1255319004CUI C4225396

Overview

Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects 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.

Abnormality of balance

Always present (100%)HP:0002141

Delayed ability to sit

Always present (100%)HP:0025336

Delayed ability to walk

Always present (100%)HP:0031936

Head circumference small for gestational age

Always present (100%)HP:0011451

Long rib cage

Always present (100%)HP:0100818

Low chest circumference

Always present (100%)HP:0000774

Medial thinning of eyebrow

Always present (100%)HP:0025325

Nonprogressive mental retardation

Always present (100%)HP:0001249

Prominent antihelix

Always present (100%)HP:0000395

Thick, flared eyebrows

Always present (100%)HP:0002553

Wide-spaced nipples

Always present (100%)HP:0006610

Amyotrophy involving the upper limbs

Very frequent (80-99%)HP:0009129

Broad, upturned nose

Very frequent (80-99%)HP:0000455

Convergent squint

Very frequent (80-99%)HP:0020045

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Dropped arches

Very frequent (80-99%)HP:0001763

Funny looking face

Very frequent (80-99%)HP:0001999

Inverted triangular face

Very frequent (80-99%)HP:0000325

Low-set ears

Very frequent (80-99%)HP:0000369

Lower limb amyotrophy

Very frequent (80-99%)HP:0007210

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Problems speaking

Very frequent (80-99%)HP:0002465

Prominent nasal root

Very frequent (80-99%)HP:0000426

Stimming

Very frequent (80-99%)HP:0000733

Vertical enlargement of face

Very frequent (80-99%)HP:0000276

Abdominal protuberance

Frequent (30-79%)HP:0001538

Abnormal curving of the cornea or lens of the eye

Frequent (30-79%)HP:0000483

Anteverted ears

Frequent (30-79%)HP:0040080

Atria septal defect

Frequent (30-79%)HP:0001631

Related Conditions

Congenital heart disease(parent)

Global developmental delay(parent)

Multiple malformation syndrome with facial defects as major feature(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1255319004
UMLS CUI: C4225396
Fully Specified Name: Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome (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.