| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T1 |
0-144 |
Sentence |
denotes |
Delineation of the clinical phenotype associated with OPHN1 mutations based on the clinical and neuropsychological evaluation of three families. |
| T2 |
145-288 |
Sentence |
denotes |
Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation. |
| T3 |
289-414 |
Sentence |
denotes |
Abnormalities of the posterior fossa with cerebellar hypoplasia have been demonstrated in all male patients reported to date. |
| T4 |
415-658 |
Sentence |
denotes |
We report here a new family with X-linked mental retardation due to mutation in OPHN1 and present unpublished data about two families previously reported, concerning the facial and psychological phenotype of affected males and carrier females. |
| T5 |
659-736 |
Sentence |
denotes |
Our study confirms that cerebellar hypoplasia is a hallmark of this syndrome. |
| T6 |
737-821 |
Sentence |
denotes |
In addition, affected males display facial similarities that can help the diagnosis. |
| T7 |
822-898 |
Sentence |
denotes |
Most carrier females have mild mental retardation and subtle facial changes. |
