Discriminating Feature | Gene(s) | Disorder | MOI | Additional Hallmarks1 of Disorder |
|---|
AGK | AGK defect (Sengers syndrome) (See DNA mtDNA Maintenance Defects Overview.) | AR | Characteristic combination of bilateral cataracts, hypertrophic cardiomyopathy, no to mild ID. Can be lethal in neonatal period but survivors to adulthood w/mild involvement are known. | — |
AUH | AUH defect (3-methylglutaconyl-CoA hydratase deficiency) (OMIM 250950) | AR | Adult-onset progressive spasticity dementia w/characteristic slowly developing radiologic picture of extensive leukoencephalopathy3. Uniquely distinguished by urinary excretion of 3-HIVA. | — |
DNAJC19 | DNAJC19 defect (DCMA syndrome) (OMIM 610198) | AR | Characteristic combination of childhood-onset dilated cardiomyopathy, non-progressive cerebellar ataxia, testicular dysgenesis, growth failure | — |
OPA3 | OPA3 defect (See Costeff Syndrome.) | AR | In infants: optic atrophy movement disorder (ataxia or extrapyramidal disorder) | — |
SERAC1 | MEGD(H)EL syndrome (See SERAC1 Deficiency.) | AR | Neonatal hypoglycemia liver failure4. In 2nd yr of life: progressive SNHL neurologic manifestations (truncal hypotonia, spasticity of limbs, dystonia, severe ID/DD, Leigh syndrome-like findings on MRI). | — |
TAFAZZIN (formerly TAZ) | TAZ defect (See Barth syndrome.) | XL | In affected males: growth delay in infancy, cardiomyopathy (left ventricular noncompaction), neutropenia, myopathy, typical facial features, hypocholesterolemia, cognitive phenotype | — |
TMEM70 | TMEM70 defect (OMIM 614052) | AR | No specific syndromic presentation to date. Typically in neonates: hyperammonemia, lactic acidosis, muscular hypotonia, hypertrophic cardiomyopathy, psychomotor retardation. In those surviving neonatal period: DD. | — |
Unknown | Not otherwise specified 3-MGA-uria (former 3-MGCA 4) | Normal 3-methylglutaconyl-CoA hydratase enzyme activity no defect in TAFAZZIN, OPA3, SERAC1, TMEM70, DNAJC5, AUH, or AGK Congenital neutropenia cyclic neutropenia | ELANE | — |
ELANE-related neutropenia | AD | Isolated neutropenia; no involvement of CNS or other organs G6PC3 | — | — |
G6PC3 deficiency | AR | Presence of cardiovascular /or urogenital abnormalities GATA1 | — | — |
GATA1-related X-linked cytopenia | XL | Typical presentation in affected males: bleeding disorder anemia; neutropenia occurs later DNAJC21 EFL1 SBDS SRP54 | — | — |
Shwachman-Diamond syndrome | ARAD5 | Intestinal malabsorption due to exocrine pancreatic dysfunction | — | — |
WAS | X-linked severe congenital neutropenia (See WAS-Related Disorders.) | XL | Isolated neutropenia; no involvement of CNS or other organs Hyperekplexia | — |
ARHGEF9 | Early-infantile epileptic encephalopathy 8 (OMIM 300607) | XL | GLRA1 GLRB SLC6A5 | — |
Hereditary hyperekplexia | ADAR6 | Generalized stiffness ... | — | — |
