Table 1 Clinical description of the six male patients and previously reported patients9,10,11,32.
Clinical description | III:2 | III:5 | III:8 | IV:1 | IV:5 | V:4 | Previously reported |
|---|---|---|---|---|---|---|---|
Age (years) | 65† | 25† | 6† | 54 | 52 | 16 | |
Male | + | + | + | + | + | + | 19 |
Intellectual disability (HP: 0001249) | + | + | + | + | + | + | 18 |
Postnatal growth retardation (HP: 0008897) | − | − | − | − | − | − | 11 (2) |
Delayed gross motor development (HP: 0002194) | UK | UK | UK | UK | + | + | 15 |
Delayed speech and language development (HP: 0000750) | + | + | + | + | + | + | 14 |
Oral-pharyngeal dysphagia (HP: 0200136) | UK | UK | UK | UK | + | + | 9 (1) |
Prominent supraorbital ridges (HP: 0000336) | + | + | + | + | + | + | 11 (3) |
Downslanted palpebral fissures (HP: 0000494) | UK | UK | UK | UK | + | − | 10 (3) |
Long philtrum (HP: 0000343) | + | + | + | + | + | + | 12 (3) |
Low-set ears (HP: 0000369) | + | + | + | + | + | + | 12 (2) |
Protruding ears (HP: 0000411) | + | + | + | + | + | + | 11 (3) |
Long face (HP: 0000276) | + | + | + | + | + | + | 10 (3) |
High palate (HP: 0000218) | UK | UK | UK | UK | + | + | 10 (2) |
Pointed chin (HP: 0000307) | + | + | + | + | + | + | 10 (4) |
Anteverted nares (HP: 0000463) | − | − | − | − | − | − | 10 (4) |
Microcephaly (HP: 0000252) | UK | UK | UK | − | − | − | 10 (4) |
Hypoplasia of the corpus callosum (HP: 0002079) | UK | UK | UK | UK | UK | UK | 11 (1) |
Generalized hypotonia (HP: 0001290) | UK | UK | UK | UK | + | + | 13 (2) |
Unusual gluteal crease with sacral caudal remnant and sacral dimple* | UK | UK | UK | UK | − | + | 12 (1) |
Joint hypermobility (HP: 0001382) | UK | UK | UK | UK | + | + | 8 (4) |
Autistic behaviors (HP: 0000729) | UK | UK | UK | UK | − | − | 10 (3) |
Prominent forehead (HP:0011220) | + | + | + | + | + | + | 9 (5) |
Macrotia (HP:0000400) | + | + | + | + | + | + | 1 |
Broad upturned nose (HP:0000463) | − | − | − | − | − | − | 11 (4) |
Bulbous nasal tip (HP:0000414) | + | − | − | − | − | − | 7 (4) |
Short neck (HP:0000470) | + | + | + | + | + | + | 0 |
Deep-set eyes (HP:0000490) | + | + | + | + | − | + | 0 |
Large hands (HP:0001176) | + | + | + | + | + | + | 0 |
Large feet (HP:0001833) | + | + | + | + | + | − | 0 |
Scoliosis (HP:0002650) | UK | UK | UK | UK | + | − | 0 |
Kyphosis (HP:0002808) | UK | UK | UK | UK | + | + | 0 |
