SIM bHLH transcription factor 1-related Prader-Willi-like syndrome

disorder

SNOMED 1229943004CUI C5680040

Overview

SIM bHLH transcription factor 1-related Prader-Willi-like 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.

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Delayed motor milestones

Very frequent (80-99%)HP:0001270

Funny looking face

Very frequent (80-99%)HP:0001999

Hypotonia, early

Very frequent (80-99%)HP:0008947

Infertility

Very frequent (80-99%)HP:0000789

Obesity

Very frequent (80-99%)HP:0001513

Abdominal obesity

Frequent (30-79%)HP:0012743

Abnormal temper tantrums

Frequent (30-79%)HP:0025160

Absence of pubertal development

Frequent (30-79%)HP:0008197

Autism spectrum disorder

Frequent (30-79%)HP:0000729

Behavioural disorders

Frequent (30-79%)HP:0000708

Brain imaging abnormality

Frequent (30-79%)HP:0410263

Clitoral hypoplasia

Frequent (30-79%)HP:0000060

Decreased testicular size

Frequent (30-79%)HP:0008734

Dermatillomania

Frequent (30-79%)HP:0012166

Dilated cerebral ventricle

Frequent (30-79%)HP:0002119

Disproportionately small hands

Frequent (30-79%)HP:0200055

Hyperphagia

Frequent (30-79%)HP:0002591

Hypogenitalism

Frequent (30-79%)HP:0003241

Hypothalamic luteinizing hormone-releasing hormone deficiency

Frequent (30-79%)HP:0012287

Hypotonia, in neonatal onset

Frequent (30-79%)HP:0001319

Low gonadotropins (secondary hypogonadism)

Frequent (30-79%)HP:0000044

Nasogastric tube feeding

Frequent (30-79%)HP:0040288

Neurodevelopmental delay

Frequent (30-79%)HP:0012758

Nonprogressive mental retardation

Frequent (30-79%)HP:0001249

Primary amenorrhea

Frequent (30-79%)HP:0000786

Reduced tendon reflexes

Frequent (30-79%)HP:0001315

Scoliosis

Frequent (30-79%)HP:0002650

Small feet

Frequent (30-79%)HP:0001773

Related Conditions

Prader-Willi-like syndrome(parent)

Genetic syndromic childhood obesity(parent)

Quick Facts

SNOMED CT: 1229943004
UMLS CUI: C5680040
Fully Specified Name: SIM bHLH transcription factor 1-related Prader-Willi-like 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.