We describe two Vietnamese siblings with confirmed ALG3-CDG (CDG-Id) by molecular testing. As far as we are aware, they are the oldest reported patients in the literature at 15 and 21years. [ncbi.nlm.nih.gov]

intolerance 0012537 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperreflexia Increased reflexes 0001347 Hypertonia 0001276 Hypsarrhythmia 0002521 Iris coloboma Cat eye 0000612 Joint contracture of the hand 0009473 Long fingers [rarediseases.info.nih.gov]

They share similar clinical features with previously reported patients including facial dysmorphism, severe psychomotor retardation, microcephaly, seizures, and gastrointestinal symptoms. [ncbi.nlm.nih.gov]

Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. [genecards.org]

Both exhibited psychomotor retardation, hypotonia, hepatomegaly, microcephaly, and seizures. [themedicalbiochemistrypage.org]

ALG1-CDG – Individuals (some 19 reported) with this form of CDG have developed epilepsy, hypotonia and severe psychomotor retardation. [rarediseases.org]

nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Diarrhea Watery stool 0002014 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 [rarediseases.info.nih.gov]

nasal bridge in patients P2, P3, P5 and P6 (B, D, G, I). [journals.plos.org]

0001252 Seizures Seizure 0001250 Percent of people who have these symptoms is not available through HPO Adducted thumb Inward turned thumb 0001181 Arthrogryposis multiplex congenita 0002804 Autosomal recessive inheritance 0000007 Bifid uvula 0000193 Bulbous [rarediseases.info.nih.gov]

Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick [rarediseases.info.nih.gov]

nasal root [ more ] 0005280 Diarrhea Watery stool 0002014 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Food intolerance 0012537 High palate Elevated palate Increased palatal [rarediseases.info.nih.gov]

0001252 Seizures Seizure 0001250 Percent of people who have these symptoms is not available through HPO Adducted thumb Inward turned thumb 0001181 Arthrogryposis multiplex congenita 0002804 Autosomal recessive inheritance 0000007 Bifid uvula 0000193 Bulbous [rarediseases.info.nih.gov]

Diarrhea Watery stool 0002014 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Food intolerance 0012537 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyperreflexia [rarediseases.info.nih.gov]

Two cases of CDG-IIj have been described where one patient suffered from milder symptoms including dysmorphic features, such as down-sloping frontal area and thick hair, mild neurologic signs, including axial hypotonia, mild peripheral hypertonia, and hyperreflexia [themedicalbiochemistrypage.org]

Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric [books.google.ro]

Neurologic manifestations of CDG-1A Axial and truncal low tone is seen in infancy 15. [slideshare.net]