Pontocerebellar hypoplasia type 7

General Information (adopted from Orphanet):

Synonyms, Signs: PCH7
Pontocerebellar hypoplasia - 46,XY disorder of sex development
Number of Symptoms 30
OrphanetNr: 284339
OMIM Id: 614969
ICD-10: Q04.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Nonsyndromic pontocerebellar hypoplasia
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis 257 / 7739
2
 (HPO:0000062) Ambiguous genitalia 74 / 7739
3
 (HPO:0000253) Progressive microcephaly 37 / 7739
4
 (HPO:0005280) Depressed nasal bridge 381 / 7739
5
 (HPO:0000431) Wide nasal bridge 290 / 7739
6
 (HPO:0000657) Oculomotor apraxia 54 / 7739
7
 (HPO:0001250) Seizures 1245 / 7739
8
 (HPO:0001258) Spastic paraplegia 97 / 7739
9
 (HPO:0001347) Hyperreflexia 363 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0002104) Apnea 106 / 7739
12
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
13
 (HPO:0001252) Muscular hypotonia 990 / 7739
14
 (HPO:0010547) Muscle flaccidity 466 / 7739
15
 (HPO:0001324) Muscle weakness 859 / 7739
16
 (OMIM) Poor spontaneous movements 2 / 7739
17
 (OMIM) Rudimentary white matter 1 / 7739
18
 (HPO:0002059) Cerebral atrophy 171 / 7739
19
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
20
 (OMIM) Lack of gonadal tissue 1 / 7739
21
 (OMIM) Delayed psychomotor development, severe 14 / 7739
22
 (OMIM) Abnormal breathing pattern 8 / 7739
23
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
24
 (OMIM) Poor fixation and following 1 / 7739
25
 (OMIM) Cerebellar neuronal loss 1 / 7739
26
 (OMIM) Lack of ependymal cells 1 / 7739
27
 (OMIM) Increased baseline gonadotropins 1 / 7739
28
 (OMIM) Testicular regression 1 / 7739
29
 (HPO:0012110) Hypoplasia of the pons 16 / 7739
30
 (OMIM) Functional anorchia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pontocerebellar hypoplasia type 7 (PCH7) is a severe neurologic condition characterized by delayed psychomotor development, hypotonia, breathing abnormalities, and gonadal abnormalities (summary by Anderson et al., 2011).

For a general phenotypic description and a discussion of ...
Clinical Description OMIM Anderson et al. (2011) reported a male infant, born of unrelated Caucasian parents, with primary hypogonadism and pontocerebellar hypoplasia. At birth, he was noted to have labioscrotal folds with rugosity, no palpable gonads, and small phallus. There were ...