Intellectual developmental disorder, X-linked syndromic, Turner type
| Disorder | |
|---|---|
| OMIM #: | #309590 (Click to access OMIM database) |
| Disorder: | Intellectual developmental disorder, X-linked syndromic, Turner type |
| Also known as: | JUBERG-MARSIDI SYNDROME JMS BROOKS-WISNIEWSKI-BROWN SYNDROME MENTAL RETARDATION, X-LINKED, WITH GROWTH RETARDATION, DEAFNESS, AND MICROGENITALISM MENTAL RETARDATION, X-LINKED, SYNDROMIC, BROOKS-WISNIEWSKI-BROWN TYPE MRXSBWB MENTAL RETARDATION AND MACROCEPHALY SYNDROME |
| Clinical | |
| Phenotype: | developmental delay, motor delay, cerebral atrophy, dysmorphic features, skeletal defects, genitourinary defects |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | X-linked |
| Mutations | |
| 1 Amish | |
| Gene: | HUWE1 |
| Base Change: | G>A, at nucleotide 12389 |
| Amino Acid Change: | |
| Last updated: | 2022-11-06 |
| References |
|---|
| Personal communication; seen at CSC. |
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