| 1 |
|
NLP001 |
Nail-Patella Syndrome
|
60 |
| 2 |
|
THV001 |
Thauvin-Robinet-Faivre Syndrome
|
29 |
| 3 |
|
EPD118 |
Epidermolysis Bullosa, Junctional 7, with Interstitial Lung Disease and Nephrotic Syndrome
|
33 |
| 4 |
P |
SHR074 |
Short-Rib Thoracic Dysplasia 1 with or Without Polydactyly
|
61 |
| 5 |
|
ICH063 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
|
15 |
| 6 |
c |
JVN036 |
Juvenile Sialidosis Type 2
|
16 |
| 7 |
P |
CNG348 |
Congenital Sialidosis Type 2
|
17 |
| 8 |
|
MLT161 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, and Hydranencephaly
|
55 |
| 9 |
|
RNL065 |
Renal Cell Carcinoma, Papillary, 1
|
79 |
| 10 |
c |
RR2001 |
Ror2-Related Robinow Syndrome
|
13 |
| 11 |
|
ADR059 |
Adermatopathic Dermatomyositis
|
13 |
| 12 |
c |
BRT065 |
Birt-Hogg-Dube Syndrome 2
|
16 |
| 13 |
|
RNL039 |
Renal Dysplasia-Limb Defects Syndrome
|
23 |
| 14 |
c |
RBN023 |
Robinow Syndrome, Autosomal Recessive 2
|
27 |
| 15 |
|
MND031 |
Mandibuloacral Dysplasia Progeroid Syndrome
|
34 |
| 16 |
c |
RBN020 |
Robinow Syndrome, Autosomal Dominant 3
|
39 |
| 17 |
c |
ATS082 |
Autosomal Dominant Robinow Syndrome
|
42 |
| 18 |
|
HYP187 |
Hypertryptophanemia
|
42 |
| 19 |
|
HYP827 |
Hypomagnesemia 5, Renal, with or Without Ocular Involvement
|
43 |
| 20 |
c |
RBN017 |
Robinow Syndrome, Autosomal Dominant 2
|
44 |
