Disorder "Smith-Lemli-Opitz Syndrome"
Found 1 record
Disorder information
Disorder name:
Smith-Lemli-Opitz Syndrome
Disoder ID:
OMIM entry:
Synonyms:
Rutledge lethal multiple congenital anomaly syndrome,Smith-Opitz-Inborn syndrome
Definition:
Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia are also common. Infants with Smith-Lemli-Opitz syndrome have weak muscle tone (hypotonia), experience feeding difficulties, and tend to grow more slowly than other infants. Most affected individuals have fused second and third toes (syndactyly), and some have extra fingers or toes (polydactyly).
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ABCA1 | ABCA1:c.4760A>G(p.Lys1587Arg) | Expressivity | Altered severity | P=0.005 | The rare maternal p.1587Lys allele in the ABCA1 gene was associated with milder phenotypes.more | more |
Total 1,Each Page
,Jump To
Page