Update the Database

Please help us keep this database up to date by submitting new details about disorders. This could include submitting a disorder not already in the database, correcting information about a disorder, or adding new phenotypes or references. Use the "Remarks" field to include any miscellaneous information or a message to the reviewer.

Your submission will be reviewed by an administrator and should appear in the database within a week. You may want to supply information about yourself in case we have questions about the disorder.

Contact Information
Name:
Phone Number:
E-mail Address:

Disorder
OMIM Number:	* # + % ^
Disorder Name:
Alternate Names:
Remarks:
Mutation
Gene:
Region:	(e.g. 5', I1, E3, PA)
Nucleotide:
Base Change:	ins.del.A>C>G>T> ACGT
	Other:
Amino Acid Change:	Substitution term ala A cys C asp D glu E phe F gly G his H ile I lys K leu L met M asn N pro P arg R gln Q ser S thr T val V trp W tyr Y --> term ala A cys C asp D glu E phe F gly G his H ile I lys K leu L met M asn N pro P arg R gln Q ser S thr T val V trp W tyr Y        (e.g. pro 82 --> leu)
	Frame shift
	Other:
Clinical	Use the format "Phenotype 1, Phenotype 2, Phenotype 3".
Phenotype:	You may use the drop-down menus to select a phenotype. Click "Add" to automatically add it to the list of phenotypes. Browser not supported Select affected region Metabolic Central nervous system Brain Cranium Scalp and Facial Hair Patterning Facies Ocular region Eye Nose Maxilla and mandible Oral region and mouth Teeth Ears Neck, thorax, and vertebrae Limbs Limbs: nails, creases, dermatogylphics Limbs: joints Skin and hair Cardiac Abdominal Renal Genital Endocrine and metabolism Immune deficiency Hematology-oncology Unusual growth patterns Behavioural Reproduction Respiratory Muscle Other Please use text box only
Geographic Location:
Seen In:	Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite
Reference
Punctuation at the end of fields is generally unnecessary, as the entry will automatically be formatted. If in doubt, follow the example entry.
Authors:	(e.g. Smith JD, Woods JW )
Year:
Title:
Journal:	(e.g. Am. J. Hum. Genet.)
Page Reference:	(e.g. 18:42-49)
PubMed ID: