Global Variome shared LOVD

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Phenotype #0000326477 Individual ID 00436297 Associated disease ? Diagnosis/Initial - Diagnosis/Definite cohesinopathy Phenotype details no synophrys; long eyelashes,long philtrum, absent teeth(late erupting), thin upper lip, micrognathia; developmental delay, intellectual disability; compulsive, anxiety; 5th finger clinodactyly, abnormal palmar crease,2-3 syndactyly; hirsutism, cutis marmorata, hearing loss; gastroesophageal reflux; failure to thrive; weight <2nd, length <2nd, OFC <2nd; short stature; microcephaly; motor delay; speech delay; behavioral problems; hypotonia; brachycephaly; long curly eyelashes; no ptosis; no hypertelorism; no depressed/broad nasal bridge; microtia (right); dysmorphic ears; long/smooth philtrum; no high arched palate; thin upper lip; no cleft lip/palate; late-erupting teeth; micrognathia; no short neck; hirsutism; low, posterior hairline; cutis marmorata; strabismus; conductive hearing loss; low-pitched, growling cry in infancy; small nipples; gastroesophageal reflux; no micromelia; no phocomelia; fifth finger clinodactyly; single transverse palmar crease; 2-3 toe syndactyly Inheritance Isolated (sporadic) Age/Examination 4y6m (4 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-08-31 23:02:18 +02:00 (CEST) Date last edited N/A

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