Symptom Information: Sort according to HPO 

1
 (HPO:0000311) Round face Frequent [Orphanet] 104 / 7739
2
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
3
 (HPO:0000252) Microcephaly Occasional [Orphanet] 832 / 7739
4
 (HPO:0000426) Prominent nasal bridge Occasional [Orphanet] 121 / 7739
5
 (HPO:0000271) Abnormality of the face Occasional [Orphanet] 108 / 7739
6
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
7
 (HPO:0000464) Abnormality of the neck Occasional [Orphanet] 31 / 7739
8
 (HPO:0000574) Thick eyebrow Occasional [Orphanet] 96 / 7739
9
 (HPO:0011331) Hemifacial atrophy Frequent [Orphanet] 79 / 7739
10
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
11
 (HPO:0009811) Abnormality of the elbow Very frequent [Orphanet] 30 / 7739
12
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 328 / 7739
13
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
14
 (HPO:0002750) Delayed skeletal maturation Occasional [Orphanet] 250 / 7739
15
 (HPO:0002983) Micromelia Very frequent [Orphanet] 130 / 7739
16
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
17
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
18
 (HPO:0004780) Elbow hypertrichosis 1 / 7739
19
 (OMIM) Hypertrichosis limited to elbows 1 / 7739
20
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
21
 (HPO:0008905) Rhizomelia Very frequent [Orphanet] 85 / 7739
22
 (HPO:0000606) Abnormality of the periorbital region Occasional [Orphanet] 96 / 7739
23
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
24
 (HPO:0010720) Abnormal hair pattern Very frequent [Orphanet] 14 / 7739
25
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739