| MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3 (MCAHS3) | |
| PIGT-CDG | |
|
615398
OMIM = Online Mendelian Inheritance of Men | |
|
369837 | |
| GPI transamidase component PIG-T | |
rare autosomal recessive mutation in the PIGT gene | |
| Laboratory findings | Calcium inc (serum) Calcium inc (urine) L-Lactic acid normal/inc (blood) Phosphatase, alkaline dec (serum) |
| Symptoms | apnea ataxia blindness, visual loss, visual impairment cardiac involvement, cardiac defects cardiomyopathy cerebellar atrophy or hypoplasia cerebral atrophy developmental delay dysmorphism EEG abnormalities [-] epilepsy feeding difficulties, poor feeding hypotonia intellectual disability/intellectual developmental disorder joint hypermobilty, dislocations, laxity macrocephaly (large calvaria, >2 SD for age) macrosomia MRI, brain, abnormalities [-] nephrocalcinosis nystagmus onset, childhood onset, infancy osteoporosis renal cysts seizures skeletal changes, skeletal abnormalities skoliosis, kyphoskoliosis strabismus |