Oro-facial digital syndrome type 14

disorder

SNOMED 763837007CUI C4706604

Overview

Oro-facial digital syndrome type 14 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.

Cerebellar vermis hypoplasia

Always present (100%)HP:0001320

CNS hypomyelination

Always present (100%)HP:0003429

Mental retardation, severe

Always present (100%)HP:0010864

Short penis

Always present (100%)HP:0000054

Abnormal myelination

Frequent (30-79%)HP:0012447

Absent epiglottis

Frequent (30-79%)HP:0008753

Broad big toe

Frequent (30-79%)HP:0010055

Bulbous nose

Frequent (30-79%)HP:0000414

Central hypotonia

Frequent (30-79%)HP:0001252

Cleft lip

Frequent (30-79%)HP:0410030

Cleft of palate

Frequent (30-79%)HP:0000175

Cognitive delay

Frequent (30-79%)HP:0001263

Corpus callosum agenesis, partial

Frequent (30-79%)HP:0001338

Cryptorchidism, bilateral

Frequent (30-79%)HP:0008689

Dandy-Walker cyst

Frequent (30-79%)HP:0001305

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dilated fourth ventricle

Frequent (30-79%)HP:0002198

Dilated third ventricle

Frequent (30-79%)HP:0007082

Displacement of the hallux

Frequent (30-79%)HP:0010051

Epispadias

Frequent (30-79%)HP:0000039

Extra oral frenum

Frequent (30-79%)HP:0000191

Gastrostomy tube feeding in infancy

Frequent (30-79%)HP:0011471

Hamartoma of tongue

Frequent (30-79%)HP:0011802

Hole in the back of the eye

Frequent (30-79%)HP:0000480

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Increased intercanthal distance

Frequent (30-79%)HP:0000506

Increased tooth count

Frequent (30-79%)HP:0011069

Lobulate tongue

Frequent (30-79%)HP:0000180

Malformation of face

Frequent (30-79%)HP:0001999

Mental-retardation

Frequent (30-79%)HP:0001249

Related Conditions

Oral-facial-digital syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Digestive system hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Developmental hereditary disorder(parent)

Congenital microcephalus(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 763837007
UMLS CUI: C4706604
Fully Specified Name: Oro-facial digital syndrome type 14 (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.