Blepharophimosis, intellectual disability syndrome, Verloes type

disorder

SNOMED 778009001CUI C4755262

Overview

Blepharophimosis, intellectual disability syndrome, Verloes type 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.

Abnormal preputium morphology

Frequent (30-79%)HP:0100587

Blepharophimosis

Frequent (30-79%)HP:0000581

Head circumference small for gestational age

Frequent (30-79%)HP:0011451

Hypotonia, early

Frequent (30-79%)HP:0008947

Hypsarrhythmia by EEG

Frequent (30-79%)HP:0002521

Mental retardation, severe

Frequent (30-79%)HP:0010864

Psychomotor retardation, moderate

Frequent (30-79%)HP:0011343

Seizures

Frequent (30-79%)HP:0001250

Thumb-in-palm pattern

Frequent (30-79%)HP:0001181

Abnormal caudate nucleus morphology

Occasional (5-29%)HP:0002339

Broad columella

Occasional (5-29%)HP:0010761

Bulbous tip of nose

Occasional (5-29%)HP:0005274

Choroid plexus cyst

Occasional (5-29%)HP:0002190

Cleft soft palate

Occasional (5-29%)HP:0000185

Decreased amniotic fluid index

Occasional (5-29%)HP:0001562

Decreased height of philtrum

Occasional (5-29%)HP:0000322

Deep palmar creases

Occasional (5-29%)HP:0006191

Dilatation of lateral cerebral ventricles

Occasional (5-29%)HP:0006956

Flat philtrum

Occasional (5-29%)HP:0000319

Glanular hypospadias

Occasional (5-29%)HP:0000807

Hypertrophy of cheeks

Occasional (5-29%)HP:0000293

Hypoplastic antitragus

Occasional (5-29%)HP:0011251

Large nose

Occasional (5-29%)HP:0000448

Nasal tip, depressed

Occasional (5-29%)HP:0000437

Periventricular leukomalacia

Occasional (5-29%)HP:0006970

Posteriorly angulated ears

Occasional (5-29%)HP:0000358

Potato nose

Occasional (5-29%)HP:0000414

Prominent antihelix

Occasional (5-29%)HP:0000395

Retrognathia

Occasional (5-29%)HP:0000278

Round, full face

Occasional (5-29%)HP:0000311

Related Conditions

Hereditary disorder of the visual system(parent)

Recessive hereditary disorder (autosomal)(parent)

Blepharophimosis, intellectual disability syndrome(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 778009001
UMLS CUI: C4755262
Fully Specified Name: Blepharophimosis, intellectual disability syndrome, Verloes type (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.