Pontocerebellar hypoplasia type 3

General Information (adopted from Orphanet):

Synonyms, Signs: CLAM
PCH3
PCH without dyskinesia
cerebellar atrophy with progressive microcephaly
pch with optic atrophy
Number of Symptoms 33
OrphanetNr: 97249
OMIM Id: 608027
ICD-10: Q04.3
UMLs: C1842687
MeSH: C548072
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:0000293) Full cheeks 85 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0002714) Downturned corners of mouth 98 / 7739
4
 (HPO:0000253) Progressive microcephaly 37 / 7739
5
 (HPO:0000248) Brachycephaly 222 / 7739
6
 (HPO:0000520) Proptosis 192 / 7739
7
 (HPO:0000252) Microcephaly 832 / 7739
8
 (HPO:0000218) High palate 356 / 7739
9
 (HPO:0000637) Long palpebral fissure 21 / 7739
10
 (HPO:0000343) Long philtrum 262 / 7739
11
 (HPO:0000648) Optic atrophy 238 / 7739
12
 (HPO:0000369) Low-set ears 372 / 7739
13
 (HPO:0000400) Macrotia 108 / 7739
14
 (HPO:0000365) Hearing impairment 539 / 7739
15
 (HPO:0001263) Global developmental delay 853 / 7739
16
 (HPO:0001347) Hyperreflexia 363 / 7739
17
 (HPO:0001257) Spasticity 251 / 7739
18
 (HPO:0001250) Seizures 1245 / 7739
19
 (HPO:0004322) Short stature 1232 / 7739
20
 (HPO:0004325) Decreased body weight 492 / 7739
21
 (HPO:0001319) Neonatal hypotonia 101 / 7739
22
 (HPO:0008936) Muscular hypotonia of the trunk 77 / 7739
23
 (HPO:0002421) Poor head control 23 / 7739
24
 (OMIM) Developmental delay, severe 13 / 7739
25
 (OMIM) Small cerebellum 6 / 7739
26
 (OMIM) Small brainstem 4 / 7739
27
 (HPO:0012110) Hypoplasia of the pons 16 / 7739
28
 (HPO:0003676) Progressive disorder 148 / 7739
29
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
30
 (HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
31
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
32
 (HPO:0001272) Cerebellar atrophy 197 / 7739
33
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. Clinical features vary, but usually include severe developmental delay, dysmorphic features, seizures, and early death (summary by Durmaz et al., 2009). ...
Clinical Description OMIM Rajab et al. (2003) described a unique form of PCH, which they called cerebellar atrophy with progressive microcephaly (CLAM), in 3 sibs of a consanguineous family from the Sultanate of Oman. All 3 patients had microcephaly and generalized ...