Symptom Information: Sort according to HPO 

1
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
2
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
3
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 309 / 7739
4
 (HPO:0002101) Abnormal lung lobation Occasional [Orphanet] 33 / 7739
5
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
6
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
7
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
10
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
11
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
12
 (HPO:0000448) Prominent nose 56 / 7739
13
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739
14
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
15
 (HPO:0001367) Abnormal joint morphology 53 / 7739
16
 (HPO:0001518) Small for gestational age 107 / 7739
17
 (HPO:0001838) Rocker bottom foot 85 / 7739
18
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
19
 (HPO:0005105) Abnormal nasal morphology Very frequent [Orphanet] 114 / 7739
20
 (OMIM) Mild restriction 1 / 7739
21
 (OMIM) Lethal in months 1 / 7739
22
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
23
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
24
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
25
 (HPO:0009466) Radial deviation of finger Frequent [Orphanet] 101 / 7739
26
 (HPO:0001522) Death in infancy Very frequent [Orphanet] 275 / 7739
27
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739