KAGAMI-OGATA SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 33
OrphanetNr:
OMIM Id: 608149
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:0000463) Anteverted nares rare [HPO:skoehler] 305 / 7739
2
 (HPO:0005280) Depressed nasal bridge 381 / 7739
3
 (HPO:0002007) Frontal bossing rare [HPO:skoehler] 366 / 7739
4
 (HPO:0000581) Blepharophimosis 197 / 7739
5
 (HPO:0000347) Micrognathia rare [HPO:skoehler] 426 / 7739
6
 (HPO:0000278) Retrognathia 100 / 7739
7
 (HPO:0000327) Hypoplasia of the maxilla rare [HPO:skoehler] 129 / 7739
8
 (HPO:0008551) Microtia 98 / 7739
9
 (HPO:0001263) Global developmental delay rare [HPO:skoehler] 853 / 7739
10
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
11
 (HPO:0002751) Kyphoscoliosis rare [HPO:skoehler] 131 / 7739
12
 (HPO:0001371) Flexion contracture 220 / 7739
13
 (HPO:0009826) Limb undergrowth 8 / 7739
14
 (HPO:0000883) Thin ribs rare [HPO:skoehler] 31 / 7739
15
 (HPO:0002673) Coxa valga rare [HPO:skoehler] 57 / 7739
16
 (HPO:0100807) Long fingers rare [HPO:skoehler] 23 / 7739
17
 (HPO:0000890) Long clavicles rare [HPO:skoehler] 13 / 7739
18
 (HPO:0001622) Premature birth 100 / 7739
19
 (HPO:0001561) Polyhydramnios 191 / 7739
20
 (HPO:0002240) Hepatomegaly rare [HPO:skoehler] 467 / 7739
21
 (HPO:0001744) Splenomegaly rare [HPO:skoehler] 337 / 7739
22
 (HPO:0001540) Diastasis recti 23 / 7739
23
 (HPO:0000023) Inguinal hernia rare [HPO:skoehler] 181 / 7739
24
 (HPO:0001539) Omphalocele rare [HPO:skoehler] 102 / 7739
25
 (HPO:0001642) Pulmonic stenosis rare [HPO:skoehler] 89 / 7739
26
 (HPO:0002092) Pulmonary hypertension rare [HPO:skoehler] 109 / 7739
27
 (HPO:0001631) Atria septal defect rare [HPO:skoehler] 274 / 7739
28
 (HPO:0001643) Patent ductus arteriosus rare [HPO:skoehler] 228 / 7739
29
 (HPO:0001629) Ventricular septal defect rare [HPO:skoehler] 316 / 7739
30
 (HPO:0002089) Pulmonary hypoplasia rare [HPO:skoehler] 80 / 7739
31
 (HPO:0001601) Laryngomalacia rare [HPO:skoehler] 61 / 7739
32
 (HPO:0001252) Muscular hypotonia rare [HPO:skoehler] 990 / 7739
33
 (HPO:0012745) Short palpebral fissure rare [HPO:skoehler] 47 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: