PONTOCEREBELLAR HYPOPLASIA, TYPE 1B

General Information (adopted from Orphanet):

Synonyms, Signs: PCH1B
Number of Symptoms 41
OrphanetNr:
OMIM Id: 614678
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001308) Tongue fasciculations 18 / 7739
2
(HPO:0000253) Progressive microcephaly 37 / 7739
3
(HPO:0012473) Tongue atrophy 8 / 7739
4
(HPO:0000556) Retinal dystrophy rare [HPO:skoehler] 65 / 7739
5
(HPO:0007973) Retinal dysplasia 27 / 7739
6
(HPO:0000486) Strabismus 576 / 7739
7
(HPO:0001135) Chorioretinal dystrophy 18 / 7739
8
(HPO:0000639) Nystagmus 555 / 7739
9
(HPO:0007731) Chorioretinal dysplasia 16 / 7739
10
(HPO:0000657) Oculomotor apraxia 54 / 7739
11
(HPO:0001344) Absent speech 57 / 7739
12
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
13
(HPO:0001347) Hyperreflexia 363 / 7739
14
(HPO:0001257) Spasticity 251 / 7739
15
(HPO:0007002) Motor axonal neuropathy 17 / 7739
16
(HPO:0001263) Global developmental delay 853 / 7739
17
(HPO:0002827) Hip dislocation 94 / 7739
18
(HPO:0001760) Abnormality of the foot 96 / 7739
19
(HPO:0001371) Flexion contracture 220 / 7739
20
(HPO:0011968) Feeding difficulties 240 / 7739
21
(HPO:0001510) Growth delay 295 / 7739
22
(HPO:0002093) Respiratory insufficiency 410 / 7739
23
(HPO:0010547) Muscle flaccidity 466 / 7739
24
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
(HPO:0002421) Poor head control 23 / 7739
26
(HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
27
(HPO:0001324) Muscle weakness 859 / 7739
28
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
29
(HPO:0001252) Muscular hypotonia 990 / 7739
30
(OMIM) EMG shows neurogenic changes 5 / 7739
31
(OMIM) Lack of motor milestones 1 / 7739
32
(OMIM) Poor growth, postnatal 8 / 7739
33
(HPO:0002350) Cerebellar cyst 14 / 7739
34
(OMIM) Loss of motor neurons in the spinal cord 2 / 7739
35
(OMIM) Global developmental delay, profound 2 / 7739
36
(OMIM) Poor visual attention 1 / 7739
37
(OMIM) Loss of cerebellar granular cells 1 / 7739
38
(HPO:0002059) Cerebral atrophy 171 / 7739
39
(OMIM) Lack of speech 17 / 7739
40
(HPO:0001272) Cerebellar atrophy 197 / 7739
41
(OMIM) Loss of cerebellar Purkinje cells 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement ...
Clinical Description OMIM Ryan et al. (2000) reported 5 patients, including 2 sibs, with pontocerebellar hypoplasia associated with anterior horn cell disease of the spinal cord. The 2 sibs died at ages 6 days and 5 months, respectively. They both had ...
Molecular genetics OMIM In affected members of 9 families with autosomal recessive pontocerebellar hypoplasia type 1B, Wan et al. (2012) identified homozygous or compound heterozygous mutations in the EXOSC3 gene (see, e.g., 606489.0001-606489.0005). The first mutation was identified by genomewide scan ...