Mito DB

Prevalence (%) of clinical parameters based on data from 4 references describing 191 individuals

Add new symptom/sign to this disease

Select symptom from list or write it in the box		Pubmed id number as a reference	Organ system affected

Number of patients in the reference	Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)

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List of symptoms

Symptom/sign	Organ system	Percent affected	Pubmed id	Added on(yyyy-mm-dd)	Edit/add reference
Syndactyly	skeletal	100 %	7645606	2012-01-25
Craniosynostosis	skeletal	100 %	16691624	2012-01-26
Proptosis	nervous	92 %	16876521	2012-01-26
Non-progressive ventriculomegaly	nervous	76 %	16691624	2012-01-26
Strabismus	nervous	66 %	16876521	2012-01-25
Mental retardation	nervous	52 %	3351902	2012-01-26
Emmetropia	nervous	51 %	16876521	2012-01-25
Visual impairment	nervous	44 %	16876521	2012-01-25
Astigmatism	nervous	42 %	16876521	2012-01-25
Septum pellucidum defect	nervous	40 %	16691624	2012-01-26
Hypermetropia	nervous	34 %	16876521	2012-01-25
Ptosis	nervous	32 %	16876521	2012-01-26
Anisometropia	nervous	27 %	16876521	2012-01-25
Amblyopia	nervous	18 %	16876521	2012-01-25
Myopia	nervous	15 %	16876521	2012-01-25
Hydrocephalus	nervous	13 %	16691624	2012-01-26
Optic atrophy	nervous	8 %	16876521	2012-01-25
Corpus callosum agenesis	nervous	7 %	16691624	2012-01-26

List of references:

Hands and feet in the Apert syndrome.
M M Cohen, S Kreiborg,

American journal of medical genetics - May 1995

Intracranial anomalies detected by imaging studies in 30 patients with Apert syndrome.
Fabiola Quintero-Rivera, Caroline D Robson, Rosemary E Reiss, Deborah Levine, Carol B Benson, John B Mulliken, Virginia E Kimonis,

American journal of medical genetics. Part A - Jun 2006

Ophthalmic findings in apert syndrome prior to craniofacial surgery.
Jwu Jin Khong, Peter Anderson, Timothy L Gray, Michael Hammerton, Dinesh Selva, David David,

American journal of ophthalmology - Aug 2006

Intellectual development in Apert's syndrome: a long term follow up of 29 patients.
M A Patton, J Goodship, R Hayward, R Lansdown,

Journal of medical genetics - Mar 1988