HYPOTHALAMIC HAMARTOMASCONGENITAL HYPOTHALAMIC HAMARTOMA SYNDROME, INCLUDED

General Information (adopted from Orphanet):

Synonyms, Signs: CHHS, INCLUDED
Number of Symptoms 28
OrphanetNr:
OMIM Id: 241800
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000054) Micropenis 257 / 7739
2
 (HPO:0000110) Renal dysplasia 44 / 7739
3
 (HPO:0005280) Depressed nasal bridge 381 / 7739
4
 (HPO:0000175) Cleft palate 349 / 7739
5
 (HPO:0000161) Median cleft lip 27 / 7739
6
 (HPO:0002085) Occipital encephalocele 20 / 7739
7
 (HPO:0000347) Micrognathia 426 / 7739
8
 (HPO:0000171) Microglossia 27 / 7739
9
 (HPO:0003196) Short nose 264 / 7739
10
 (HPO:0000256) Macrocephaly 298 / 7739
11
 (HPO:0009733) Glioma 8 / 7739
12
 (HPO:0002444) Hypothalamic hamartoma 5 / 7739
13
 (HPO:0000830) Anterior hypopituitarism 9 / 7739
14
 (HPO:0002827) Hip dislocation 94 / 7739
15
 (HPO:0000773) Short ribs 70 / 7739
16
 (HPO:0100259) Postaxial polydactyly 85 / 7739
17
 (HPO:0002983) Micromelia 130 / 7739
18
 (HPO:0002652) Skeletal dysplasia 113 / 7739
19
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
20
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
21
 (HPO:0002089) Pulmonary hypoplasia 80 / 7739
22
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
23
 (OMIM) Alveolar frenula 1 / 7739
24
 (HPO:0001522) Death in infancy Typical [HPO:probinson] 275 / 7739
25
 (MedDRA:10006143) Brain stem glioma 1 / 7739
26
 (OMIM) Abnormal auricles 4 / 7739
27
 (HPO:0000238) Hydrocephalus 278 / 7739
28
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: