Phenotype #0000284212

Individual ID 00390724
Associated disease NDD
Diagnosis/Initial homocystinuria
Diagnosis/Definite -
Phenotype details intrauterine growth retardation (-2.0 SD); no short stature (-1.0 SD); developmental delay; downslanting palpebral fissures, low-set and posteriorly rotated ears, narrow and high palate, small chin; mild pectus carinatum; arachnodactyly, hypoplastic toenails, hyperkyphosis of the thoracic spine, hyperlordosis lumbar spine; cerebral sinus thrombosis; hypotonia, laryngeal web, delayed puberty, cerebral sinus thrombosis, anxiety
Inheritance Familial, autosomal dominant
Age/Examination 23y (23 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2021-11-11 17:06:31 +01:00 (CET)
Date last edited N/A

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