| PHOSPHATIDYLINOSITOL 4-KINASE TYPE 2 ALPHA DEFICIENCY (PI4K2A) | |
|
609763
OMIM = Online Mendelian Inheritance of Men | |
|
--- | |
very rare autosomal recessive | |
| Laboratory findings | L-Lactic acid inc (plasma) Transaminases (ASAT/ALAT) inc (serum) L-Lactic acid inc (urine) Alanine inc (plasma) gamma-Glutamyl transferase (GGT) inc (serum) Sialotransferrins (isoelectrofocussing) n/i (serum) |
| Symptoms | akathisia chorea or athetosis cutis laxa defect of walking, running, rising or climbing developmental delay dyskinesia dysmorphism dystonia epicanthus or medial eyelid fold epilepsy failure to thrive feeding difficulties, poor feeding heat intolerance hepatomegaly (large liver) hypotonia intellectual disability/intellectual developmental disorder irritability loss of early milestones microcephaly (<2 SD for age) myoclonus sclerae, blue or bluish seizures sleep disturbances small chin or micrognathia strabismus onset, childhood onset, infancy |