Gene(s) | Differential Disorder | MOI | Phenotype |
|---|
AP3D1 | Hermansky-Pudlak syndrome types 2 (AP3B1) 10 (AP3D1) | AR | Primary immunodeficiency w/(oculo-)cutaneous hypopigmentation, DD, seizures, failure to gain weight; Not assoc w/ACC or cardiomyopathy CTDP1 |
Congenital cataracts, facial dysmorphism, neuropathy | AR | Cataracts, myopathy, neuropathy, DD, brain malformation; Not assoc w/cardiomyopathy, immunodeficiency, or hypopigmentation | — |
LAMTOR2 | LAMTOR2-associated primary immunodeficiency (OMIM 610798) | AR | Primary immunodeficiency w/ of memory B cells, cutaneous hypopigmentation, coarse facies, short stature; Not assoc w/neurologic features (DD, mvmt disorders) or brain malformations LYST |
Chediak-Higashi syndrome | AR | Primary immunodeficiency w/hemophagocytic lymphohistiocytosis, oculocutaneous albinism, failure to gain weight, delayed myelination, cortical atrophy, mvmt disorder, myopathy | — |
Not assoc w/ACC or cardiomyopathy PI4K2A1PI4KA2 | PI4 kinase deficiency (See PI4KA-Related Disorder.) | AR | Neurodevelopmental disabilities, dysplastic corpus callosum, immunodeficiency |
RAB27A | Griscelli syndrome type 2 (OMIM 607624) | AR | Primary immunodeficiency w/hemophagocytic lymphohistiocytosis, cutaneous albinism, mvmt disorder; Not assoc w/ACC or cardiomyopathy RAB3GAP1 RAB3GAP2 RAB18 |
TBC1D20 | Warburg micro syndrome (See RAB18 Deficiency.) | AR | Dysgenesis of corpus callosum, DD, mvmt disorder, microcephaly; Not assoc w/immunodeficiency or hypopigmentation SIL1 |
Marinesco-Sjgren syndrome | AR | DD, cataracts, myopathy, neuropathy, mvmt disorder, skeletal deformities; Not assoc w/cardiomyopathy, immunodeficiency, or hypopigmentation | — |
SNAP29 | SNAP29-associated cerebral dysgenesis (OMIM 609528) | AR | Dysgenesis of corpus callosum, neuronal migration abnormalities, progressive microcephaly, DD, ichthyosis, palmoplantar keratoderma; Not assoc w/immunodeficiency or cardiomyopathy |
VPS45 | VPS45-associated immunodeficiency (OMIM 615285) | AR | Primary immunodeficiency w/failure to gain weight DD; Not assoc w/hypopigmentation or brain malformations Adapted from , Table 3 ACC = agenesis of the corpus callosum; AR = autosomal recessive; DD = developmental delay; MOI = mode of inheritance 1. 2. |
