PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features syndrome

disorder

SNOMED 1208987006CUI C4693860

Overview

PHIP-related behavioural problems, intellectual disability, obesity, dysmorphic features 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.

Anxiety disease

Always present (100%)HP:0000739

Mental and motor retardation

Always present (100%)HP:0001263

Obesity

Always present (100%)HP:0001513

Large ears

Very frequent (80-99%)HP:0000400

Neurodevelopmental delay

Very frequent (80-99%)HP:0012758

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Abnormality of refraction

Frequent (30-79%)HP:0000539

Broad, upturned nose

Frequent (30-79%)HP:0000455

Childhood attention deficit/hyperactivity disorder

Frequent (30-79%)HP:0007018

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Decreased projection of mandible

Frequent (30-79%)HP:0000347

Decreased volume of lip vermillion

Frequent (30-79%)HP:0000233

Deep set eye

Frequent (30-79%)HP:0000490

Developmental dysplasia of the hip

Frequent (30-79%)HP:0001385

Feeding difficulties

Frequent (30-79%)HP:0011968

Feeding difficulties in infancy

Frequent (30-79%)HP:0008872

Flat light-brown mark on skin

Frequent (30-79%)HP:0000957

High forehead

Frequent (30-79%)HP:0000348

Hyperopia

Frequent (30-79%)HP:0000540

Impulsivity

Frequent (30-79%)HP:0100710

Increased body weight

Frequent (30-79%)HP:0004324

Increased distance between eyes

Frequent (30-79%)HP:0000316

Increased length of philtrum

Frequent (30-79%)HP:0000343

Laryngotracheal cleft

Frequent (30-79%)HP:0008751

Meconium stained amniotic fluid

Frequent (30-79%)HP:0012420

Nostrils anteverted

Frequent (30-79%)HP:0000463

Peripheral hypotonia

Frequent (30-79%)HP:0001252

Permanent curving of the pinkie finger

Frequent (30-79%)HP:0004209

physical aggression

Frequent (30-79%)HP:0000718

Prominent ear lobes

Frequent (30-79%)HP:0009748

Related Conditions

Autosomal dominant hereditary disorder(parent)

Developmental hereditary disorder(parent)

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

Genetic obesity disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1208987006
UMLS CUI: C4693860
Fully Specified Name: Pleckstrin homology domain interacting protein-related behavioral problems, intellectual disability, obesity, dysmorphic features 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.