| Clinical features | |||
---|---|---|---|---|
Patient | NF2 | Cleft palate or craniofacial dysmorphism | MR | Other described findings |
PRS-NF2 | Yes | Cleft palate Microcephaly | Yes | Micrognathia, hypertelorism, conductive hearing loss. Corpus callosum and cardiac evaluation were normal. |
TC [29] | ? * | Cleft palate | ? ** | Micrognathia, hypertelorism, absent corpus callosum, cardiac defects, |
pX [28] | ? * | Cleft palate | Yes | Mandibular hypoplasia, hypertelorism |
p41 [27] | Yes | Facial dysmorphism | Yes | Cerebral paresis, pes cavus, peripheral facial paresis, cerebral movement disorder, cataracts |
JP [19] | Yes | - | Yes | Seizure disorder |
p12 [27] | Yes | - | Yes | Â |
999 [30] | - | Microcephaly | Yes | Speech delay |
4110 [30] | - | Cleft palate | Yes | Auricular pits, cataracts, deafness, hypotonia, proptosis, short phalanges |