ANTERIOR CHAMBER CLEAVAGE DISORDER, CEREBELLAR HYPOPLASIA, HYPOTHYROIDISM,AND TRACHEAL STENOSIS

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 19
OrphanetNr:
OMIM Id: 601427
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0008736) Hypoplasia of penis 7 / 7739
2
 (HPO:0000164) Abnormality of the teeth 291 / 7739
3
 (HPO:0000470) Short neck 345 / 7739
4
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
5
 (HPO:0000612) Iris coloboma 116 / 7739
6
 (HPO:0007700) Anterior segment dysgenesis 9 / 7739
7
 (HPO:0000402) Stenosis of the external auditory canal 22 / 7739
8
 (HPO:0000824) Growth hormone deficiency 56 / 7739
9
 (HPO:0000851) Congenital hypothyroidism 16 / 7739
10
 (HPO:0000765) Abnormality of the thorax 64 / 7739
11
 (HPO:0001773) Short foot 86 / 7739
12
 (HPO:0001385) Hip dysplasia 242 / 7739
13
 (HPO:0001510) Growth delay 295 / 7739
14
 (HPO:0001595) Abnormality of the hair 89 / 7739
15
 (HPO:0002777) Tracheal stenosis 35 / 7739
16
 (OMIM) Fusion of 1-2 lower incisors 1 / 7739
17
 (Orphanet:24400) Dense scalp hair 1 / 7739
18
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
19
 (OMIM) Shield thorax 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: