SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION,LETHAL

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 54
OrphanetNr:
OMIM Id: 602613
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000520) Proptosis 192 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0000272) Malar flattening 277 / 7739
5
 (HPO:0000343) Long philtrum 262 / 7739
6
 (HPO:0000470) Short neck 345 / 7739
7
 (HPO:0003196) Short nose 264 / 7739
8
 (HPO:0012368) Flat face 106 / 7739
9
 (HPO:0000463) Anteverted nares 305 / 7739
10
 (HPO:0005280) Depressed nasal bridge 381 / 7739
11
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
12
 (HPO:0001250) Seizures 1245 / 7739
13
 (HPO:0008839) Hypoplastic pelvis 18 / 7739
14
 (HPO:0008905) Rhizomelia 85 / 7739
15
 (HPO:0005043) Proximal humeral metaphyseal irregularity 2 / 7739
16
 (HPO:0005716) Lethal skeletal dysplasia 6 / 7739
17
 (HPO:0008452) Wafer-thin platyspondyly 1 / 7739
18
 (HPO:0002984) Hypoplasia of the radius 44 / 7739
19
 (HPO:0000954) Single transverse palmar crease 162 / 7739
20
 (HPO:0000890) Long clavicles 13 / 7739
21
 (HPO:0005257) Thoracic hypoplasia 79 / 7739
22
 (HPO:0003100) Slender long bone 45 / 7739
23
 (HPO:0006157) Prominent palmar flexion creases 1 / 7739
24
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
25
 (HPO:0003022) Hypoplasia of the ulna 40 / 7739
26
 (HPO:0001193) Ulnar deviation of the hand or of fingers of the hand 17 / 7739
27
 (HPO:0001561) Polyhydramnios 191 / 7739
28
 (HPO:0000023) Inguinal hernia 181 / 7739
29
 (HPO:0002245) Meckel diverticulum 12 / 7739
30
 (HPO:0004322) Short stature 1232 / 7739
31
 (HPO:0001508) Failure to thrive 454 / 7739
32
 (HPO:0008070) Sparse hair 94 / 7739
33
 (HPO:0000965) Cutis marmorata 46 / 7739
34
 (HPO:0001655) Patent foramen ovale 31 / 7739
35
 (HPO:0001714) Ventricular hypertrophy 20 / 7739
36
 (HPO:0002104) Apnea 106 / 7739
37
 (HPO:0002059) Cerebral atrophy 171 / 7739
38
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
39
 (OMIM) Encephalomyelopathy 2 / 7739
40
 (OMIM) Trident configuration of acetabular roof 1 / 7739
41
 (HPO:0007100) Progressive ventriculomegaly 1 / 7739
42
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
43
 (OMIM) Diffuse, severe neuronal loss 1 / 7739
44
 (OMIM) Fragile scalp hair 1 / 7739
45
 (OMIM) Small cerebellum 6 / 7739
46
 (HPO:0002529) Neuronal loss in central nervous system 37 / 7739
47
 (HPO:0002171) Gliosis 48 / 7739
48
 (OMIM) Wide sacrosciatic notch 2 / 7739
49
 (MedDRA:10072883) Brachydactyly 153 / 7739
50
 (HPO:0001522) Death in infancy 275 / 7739
51
 (HPO:0012444) Brain atrophy 24 / 7739
52
 (OMIM) Short upturned nose 6 / 7739
53
 (OMIM) Generalized myelin loss 1 / 7739
54
 (OMIM) Progressive CNS degeneration 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: