Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome

disorder

SNOMED 723676007CUI C4510007

Overview

Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia 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.

Downturned corners of mouth

Very frequent (80-99%)HP:0002714

Ectopic anus

Very frequent (80-99%)HP:0004397

Epilepsy

Very frequent (80-99%)HP:0001250

Hypoplastic toenails

Very frequent (80-99%)HP:0001800

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Mental retardation, severe

Very frequent (80-99%)HP:0010864

Muscular hypotonia

Very frequent (80-99%)HP:0001252

Thick, flared eyebrows

Very frequent (80-99%)HP:0002553

Cleft of palate

Frequent (30-79%)HP:0000175

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Flattening of head

Frequent (30-79%)HP:0001357

Hypoplasia/agenesis of distal phalanges of toes

Frequent (30-79%)HP:0010185

Increased size of mandible

Frequent (30-79%)HP:0000303

Small or absent distal phalanges

Frequent (30-79%)HP:0009835

VSD

Frequent (30-79%)HP:0001629

Zygomatic flattening

Frequent (30-79%)HP:0000272

Related Conditions

Congenital anomaly of anus(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Epilepsy(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Hereditary disorder of nervous system(parent)

Congenital anomaly of digit(parent)

Digestive system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Congenital hypoplasia of bone of limb(parent)

Genetic intellectual disability(parent)

Abnormality of long bone morphology(parent)

Quick Facts

SNOMED CT: 723676007
UMLS CUI: C4510007
Fully Specified Name: Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.