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Ohdo syndrome, Maat-Kievit-Brunner type

disorder
SNOMED 699297004CUI C3698541

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Depressed nasal root/bridge
Always present (100%)HP:0005280
Eye drop
Always present (100%)HP:0000508
Hypoplastic mandible condyle
Always present (100%)HP:0000347
Increased width of bridge of nose
Always present (100%)HP:0000431
Joint ligamentous laxity
Always present (100%)HP:0001382
Narrow mouth
Always present (100%)HP:0000160
Palpebronasal fold
Always present (100%)HP:0000286
Sparse eyebrow
Always present (100%)HP:0045075
Speech and language difficulties
Always present (100%)HP:0000750
Feeding difficulties
Very frequent (80-99%)HP:0011968
Narrow ear canal
Very frequent (80-99%)HP:0000402
Blepharophimosis
Frequent (30-79%)HP:0000581
Central hypotonia
Frequent (30-79%)HP:0001252
Clinodactyly
Frequent (30-79%)HP:0030084
Cryptorchidism
Frequent (30-79%)HP:0000028
Deafness
Frequent (30-79%)HP:0000365
Decreased size of eyeball
Frequent (30-79%)HP:0000568
Dyschezia
Frequent (30-79%)HP:0002019
Hyperopia
Frequent (30-79%)HP:0000540
Hypotonia, early
Frequent (30-79%)HP:0008947
Increased distance between eyes
Frequent (30-79%)HP:0000316
Inverted triangular face
Frequent (30-79%)HP:0000325
Involuntary, rapid, rhythmic eye movements
Frequent (30-79%)HP:0000639
Low-set ears
Frequent (30-79%)HP:0000369
Microtia
Frequent (30-79%)HP:0008551
Nonprogressive mental retardation
Frequent (30-79%)HP:0001249
Nonverbal
Frequent (30-79%)HP:0001344
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Potato nose
Frequent (30-79%)HP:0000414
Short penis
Frequent (30-79%)HP:0000054

Related Conditions

Hereditary disorder of the visual system(parent)
X-linked hereditary disease(parent)
Blepharophimosis, intellectual disability syndrome(parent)
Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT
699297004
UMLS CUI
C3698541
Fully Specified Name
Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner 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.