Phenotype #0000350360

Individual ID 00464306
Associated disease ?
Diagnosis/Initial -
Diagnosis/Definite SSMG
Phenotype details see paper; ..., birth 38w; intrauterine growth restriction; micrognathia; microcephaly; no cleft palate; no tracheostomy; congenital heart disease (patent foramen ovale, patent ductus arteriosus); small penis; Mittendorf dot vs posterior polar cataract; short stature; rhizomelic shortening; no joint laxity; developmental delay/intellectual disability; no autism; no seizure; no carbohydrate deficient transferrin abnormalities; no giant cell hepatitis; liver function abnormalities (due to treatment for neuromyelitis optica); no hepatoblastoma
Inheritance Isolated (sporadic)
Age/Examination 7y5m (7 years, 5 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 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-03-01 09:13:49 +01:00 (CET)
Date last edited N/A

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