| Prenatal TORCH infection (particularly rubella) | NA | NA | CC, microphthalmia | Positive TORCH screen, frequently associated w/SNHL, cardiac defects, rash, hepatosplenomegaly |
| Monosomy 1p36 (OMIM 607872) | NA |
De novo
| Microcephaly, DD/ID, genital abnormalities, rarely cataracts | Characteristic dysmorphic features, cardiac defects, hearing loss, skeletal & renal abnormalities often present |
|
Monosomy 1q21
| NA |
De novo
| Microcephaly, DD/ID, genital abnormalities, hypotonia, seizures, corpus callosum hypogenesis, cataracts | ID present in only ~30% of cases, usually mild-moderate. Cardiac defects, SNHL may be present. |
Cerebrooculofacioskeletal syndrome (OMIM PS214150),
Cockayne syndrome |
ERCC1
ERCC2
ERCC5
ERCC6
ERCC8
| AR | CC, microcornea, optic atrophy, microcephaly, ID, short stature, contractures, corpus callosum hypoplasia, cryptorchidism | Cutaneous photosensitivity; cultured cells from affected individuals are hypersensitive to UV radiation. Pigmentary retinopathy, brain calcifications, FTT, arthrogryposis, SNHL may be present. |
|
Smith-Lemli-Opitz syndrome
|
DHCR7
| AR | Microcephaly, short stature, ID, hypotonia, genital abnormalities, CC | ↑ 7-dehydrocholesterol in serum. Characteristic dysmorphic features. Postaxial polydactyly or 2-3 toe syndactyly, cardiac defects, renal defects, & photosensitivity frequently present. Cataracts may appear acutely. |
| Cutis laxa, de Barsy syndrome (OMIM 219150
612940, 614438, 616603) |
ALDH18A1
PYCR1
| AR/AD | Microcephaly, ID, corpus callosum hypogenesis, hypotonia, short stature, contractures, cataracts may be present. | Lax, thin, sometimes wrinkled, skin. Progeria-like appearance. Cataracts may develop postnatally. |
| Peroxisome biogenesis disorder 14B (OMIM 614920) |
PEX11B
| AR | CC, ID, microphthalmia, short stature, hypotonia & spasticity | Normal MRI. Dry skin, SNHL may be present. |
| Epileptic encephalopathy, early infantile, 35 (OMIM 616647) |
ITPA
| AR | CC, microcephaly, ID, short stature, hypotonia & spasticity, hypogonadism | Characteristic imaging findings, early-onset dilated cardiomyopathy |
|
Marinesco-Sjögren syndrome
|
SIL1
| AR | CC, hypotonia, ID, hypogonadism | Cerebellar ataxia; imaging shows cerebellar atrophy. ↑ serum creatine kinase, myopathy, skeletal abnormalities may be present; cataracts may appear postnatally. |
| Cataract, microcephaly, arthrogryposis, and kyphosis (CAMAK/CAMFAK) syndrome (OMIM 212540) | NA | NA | CC, microcephaly, ID, contractures | Kyphosis, arthrogryposis. Brain calcifications may be present. Cataracts may appear postnatally. |
