Autosomal recessive cerebelloparenchymal disorder type 3

General Information (adopted from Orphanet):

Synonyms, Signs: CEREBELLOPARENCHYMAL DISORDER III
CPD III
CEREBELLAR GRANULAR CELL HYPOPLASIA AND MENTAL RETARDATION, CONGENITAL
CEREBELLAR HYPOPLASIA, NONPROGRESSIVE NORMAN TYPE
CPD3
SCAR2
Number of Symptoms 44
OrphanetNr: 1170
OMIM Id: 213200
ICD-10: G11.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive congenital cerebellar ataxia
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000518) Cataract Frequent [Orphanet] 454 / 7739
2
 (HPO:0008046) Abnormality of the retinal vasculature Very frequent [Orphanet] 41 / 7739
3
 (HPO:0001107) Ocular albinism Very frequent [Orphanet] 40 / 7739
4
 (HPO:0000639) Nystagmus Very frequent [Orphanet] rare [HPO:skoehler] 555 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
7
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
8
 (HPO:0001265) Hyporeflexia rare [HPO:skoehler] 208 / 7739
9
 (HPO:0001263) Global developmental delay 853 / 7739
10
 (HPO:0002317) Unsteady gait 45 / 7739
11
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
12
 (HPO:0001251) Ataxia 413 / 7739
13
 (HPO:0001257) Spasticity 251 / 7739
14
 (HPO:0002311) Incoordination 84 / 7739
15
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
16
 (HPO:0001347) Hyperreflexia 363 / 7739
17
 (HPO:0000750) Delayed speech and language development 197 / 7739
18
 (HPO:0001260) Dysarthria 329 / 7739
19
 (HPO:0001310) Dysmetria 76 / 7739
20
 (HPO:0001288) Gait disturbance Very frequent [Orphanet] 318 / 7739
21
 (HPO:0001284) Areflexia 198 / 7739
22
 (HPO:0001838) Rocker bottom foot 85 / 7739
23
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
24
 (HPO:0001761) Pes cavus rare [HPO:skoehler] 225 / 7739
25
 (HPO:0001765) Hammertoe 63 / 7739
26
 (HPO:0001822) Hallux valgus 70 / 7739
27
 (HPO:0001763) Pes planus 176 / 7739
28
 (HPO:0002024) Malabsorption Frequent [Orphanet] 142 / 7739
29
 (HPO:0004322) Short stature rare [HPO:skoehler] 1232 / 7739
30
 (HPO:0001022) Albinism Very frequent [Orphanet] 43 / 7739
31
 (HPO:0001010) Hypopigmentation of the skin Very frequent [Orphanet] 46 / 7739
32
 (HPO:0010547) Muscle flaccidity 466 / 7739
33
 (HPO:0001324) Muscle weakness 859 / 7739
34
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
35
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
36
 (OMIM) Reactive gliosis 3 / 7739
37
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
38
 (OMIM) Abnormal Purkinje cells 1 / 7739
39
 (HPO:0003593) Infantile onset 249 / 7739
40
 (OMIM) Mental retardation, moderate to severe 20 / 7739
41
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739
42
 (OMIM) Atrophy of the granular cell layer of the cerebellum 1 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (HPO:0003680) Nonprogressive disorder 23 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Norman (1940) described 3 sibs in 1 family and 2 sibs in another who had cerebellar ataxia and mental deficiency since early life. Postmortem examinations showed severe cerebellar granule cell loss. One child showed delayed motor development and ...