Pontocerebellar hypoplasia, type 9

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 82
OrphanetNr:
OMIM Id: 615809
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
29463858 [IBIS]
Age of onset: Antenatal
27066553 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: AARSKOG SYNDROME, AUTOSOMAL DOMINANT
 -AARSKOG SYNDROME, AUTOSOMAL DOMINANT

Symptom Information: Sort by abundance 

1
 (HPO:0000648) Optic atrophy 29463858 IBIS 238 / 7739
2
 (HPO:0000543) Optic disc pallor 29463858 IBIS 67 / 7739
3
 (HPO:0000639) Nystagmus 29463858 IBIS 555 / 7739
4
 (HPO:0000486) Strabismus 29463858 IBIS 576 / 7739
5
 (HPO:0100704) Cortical visual impairment 29903031; 28815207 IBIS 28 / 7739
6
 (HPO:0007663) Reduced visual acuity 29463858 IBIS 100 / 7739
7
 (HPO:0002093) Respiratory insufficiency 29463858 IBIS 410 / 7739
8
 (HPO:0011998) Postprandial hyperglycemia 29463858 IBIS 5 / 7739
9
 (HPO:0000297) Facial hypotonia 27066553 IBIS 8 / 7739
10
 (HPO:0000158) Macroglossia 27066553 IBIS 119 / 7739
11
 (HPO:0001252) Muscular hypotonia 29463858 IBIS 990 / 7739
12
 (HPO:0008936) Muscular hypotonia of the trunk 29903031 IBIS 77 / 7739
13
 (HPO:0002305) Athetosis 29463858 IBIS 31 / 7739
14
 (HPO:0002072) Chorea 29463858 IBIS 53 / 7739
15
 (HPO:0002169) Clonus 29903031 IBIS 37 / 7739
16
 (HPO:0003431) Decreased motor nerve conduction velocity 27066553 IBIS 51 / 7739
17
 (HPO:0003477) Peripheral axonal neuropathy 29903031 IBIS 62 / 7739
18
 (HPO:0002352) Leukoencephalopathy 28815207 IBIS 32 / 7739
19
 (HPO:0001347) Hyperreflexia 27066553; 29463858 IBIS 363 / 7739
20
 (HPO:0006801) Hyperactive deep tendon reflexes 29903031 IBIS 21 / 7739
21
 (HPO:0001257) Spasticity 29903031; 29463858 IBIS 251 / 7739
22
 (HPO:0002179) Opisthotonus 29463858 IBIS 35 / 7739
23
 (HPO:0002191) Progressive spasticity 28815207 IBIS 12 / 7739
24
 (HPO:0001332) Dystonia 29463858 IBIS 197 / 7739
25
 (HPO:0000817) Poor eye contact 29463858 IBIS 26 / 7739
26
 (HPO:0001263) Global developmental delay 29463858; 28815207 IBIS 853 / 7739
27
 (HPO:0011344) Severe global developmental delay 29463858 IBIS 46 / 7739
28
 (HPO:0010864) Intellectual disability, severe 29463858 IBIS 120 / 7739
29
 (HPO:0000737) Irritability 29463858 IBIS 93 / 7739
30
 (HPO:0002360) Sleep disturbance 29463858 IBIS 113 / 7739
31
 (HPO:0100660) Dyskinesia 29463858 IBIS 19 / 7739
32
 (HPO:0002015) Dysphagia 29903031 IBIS 301 / 7739
33
 (HPO:0002600) Hyporeflexia of lower limbs 27066553 IBIS 13 / 7739
34
 (HPO:0001250) Seizures 29463858 IBIS 1245 / 7739
35
 (HPO:0007359) Focal seizures 28815207 IBIS 27 / 7739
36
 (HPO:0002069) Generalized tonic-clonic seizures 28815207 IBIS 96 / 7739
37
 (HPO:0001182) Tapered finger 27066553 IBIS 93 / 7739
38
 (HPO:0001762) Talipes equinovarus 29463858 IBIS 309 / 7739
39
 (HPO:0000347) Micrognathia 28815207 IBIS 426 / 7739
40
 (HPO:0000237) Small anterior fontanelle 29463858 IBIS 10 / 7739
41
 (HPO:0000252) Microcephaly 29463858; 28815207 IBIS 832 / 7739
42
 (HPO:0005484) Postnatal microcephaly 27066553; 29463858 IBIS 32 / 7739
43
 (HPO:0000253) Progressive microcephaly 29903031 IBIS 37 / 7739
44
 (HPO:0000341) Narrow forehead 27066553 IBIS 96 / 7739
45
 (HPO:0000340) Sloping forehead 28815207 IBIS 86 / 7739
46
 (HPO:0001274) Agenesis of corpus callosum 27066553; 29463858 IBIS 142 / 7739
47
 (HPO:0002079) Hypoplasia of the corpus callosum 23911318; 29903031; 29463858; 28815207 IBIS 161 / 7739
48
 (HPO:0002020) Gastroesophageal reflux 29463858 IBIS 101 / 7739
49
 (HPO:0002119) Ventriculomegaly 29463858 IBIS 253 / 7739
50
 (HPO:0002280) Enlarged cisterna magna 23911318 IBIS 12 / 7739
51
 (HPO:0001999) Abnormal facial shape 27066553; 29903031; 29463858; 28815207 IBIS 169 / 7739
52
 (HPO:0011800) Midface retrusion 27066553 IBIS 221 / 7739
53
 (HPO:0000290) Abnormality of the forehead 29463858 IBIS 5 / 7739
54
 (HPO:0000188) Short upper lip 27066553 IBIS 8 / 7739
55
 (HPO:0000164) Abnormality of the teeth 29903031; 28815207 IBIS 291 / 7739
56
 (HPO:0000690) Agenesis of maxillary lateral incisor 28815207 IBIS 4 / 7739
57
 (HPO:0011073) Abnormality of dental color 28815207 IBIS 24 / 7739
58
 (HPO:0009765) Low hanging columella 27066553 IBIS 9 / 7739
59
 (HPO:0000426) Prominent nasal bridge 27066553 IBIS 121 / 7739
60
 (HPO:0000431) Wide nasal bridge 27066553; 29463858 IBIS 290 / 7739
61
 (HPO:0200006) Slanting of the palpebral fissure 27066553 IBIS 2 / 7739
62
 (HPO:0000286) Epicanthus 29463858 IBIS 371 / 7739
63
 (HPO:0000356) Abnormality of the outer ear 27066553; 29463858 IBIS 85 / 7739
64
 (HPO:0000358) Posteriorly rotated ears 28815207 IBIS 163 / 7739
65
 (HPO:0002104) Apnea 29463858 IBIS 106 / 7739
66
 (HPO:0000995) Melanocytic nevus 27066553 IBIS 63 / 7739
67
 (HPO:0010518) Thyroglossal cyst 29463858 IBIS 1 / 7739
68
 (HPO:0012385) Camptodactyly 27066553 IBIS 113 / 7739
69
 (HPO:0002418) Abnormality of midbrain morphology 29903031 IBIS 2 / 7739
70
 (HPO:0002134) Abnormality of the basal ganglia 28815207 IBIS 13 / 7739
71
 (HPO:0011931) Abnormality of the cerebellar peduncle 29903031 IBIS 1 / 7739
72
 (HPO:0007362) Aplasia/Hypoplasia of the brainstem 27066553 IBIS 1 / 7739
73
 (HPO:0007360) Aplasia/Hypoplasia of the cerebellum 23911318 IBIS 10 / 7739
74
 (HPO:0001321) Cerebellar hypoplasia 27066553; 29463858; 23911318 IBIS 114 / 7739
75
 (HPO:0002120) Cerebral cortical atrophy 23911318; 29463858 IBIS 187 / 7739
76
 (HPO:0006808) Cerebral hypomyelination 29463858 IBIS 16 / 7739
77
 (HPO:0030084) Clinodactyly 28815207 IBIS 90 / 7739
78
 (HPO:0001522) Death in infancy 27066553; 29463858 IBIS 275 / 7739
79
 (HPO:0012110) Hypoplasia of the pons 29463858; 27066553; 23911318 IBIS 16 / 7739
80
 (HPO:0012713) Moderate hearing impairment 29463858 IBIS 1 / 7739
81
 (HPO:0012759) Neurodevelopmental abnormality 27066553 IBIS 2 / 7739
82
 (HPO:0012758) Neurodevelopmental delay 29903031 IBIS 949 / 7739

Associated genes:

AMPD2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: