Fallot complex - intellectual deficit - growth delay

General Information (adopted from Orphanet):

Synonyms, Signs: Bindewald-Ulmer-M├╝ller syndrome
Number of Symptoms 27
OrphanetNr: 3304
OMIM Id: 601127
ICD-10: Q87.8
UMLs:
MeSH:
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: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
2
(HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
3
(HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
4
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
5
(HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
6
(HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
7
(HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
8
(HPO:0000271) Abnormality of the face 108 / 7739
9
(HPO:0000348) High forehead Frequent [Orphanet] 157 / 7739
10
(HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
11
(HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
12
(HPO:0001249) Intellectual disability 1089 / 7739
13
(HPO:0001276) Hypertonia Occasional [Orphanet] 317 / 7739
14
(HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
15
(HPO:0001508) Failure to thrive 454 / 7739
16
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
17
(HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
18
(HPO:0001636) Tetralogy of Fallot Very frequent [Orphanet] 104 / 7739
19
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
20
(HPO:0001629) Ventricular septal defect 316 / 7739
21
(HPO:0001719) Double outlet right ventricle 12 / 7739
22
(HPO:0001642) Pulmonic stenosis 89 / 7739
23
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
24
(OMIM) Minor facial anomalies 1 / 7739
25
(OMIM) Subaortic ventricular septal defect 1 / 7739
26
(HPO:0400004) Long ear Very frequent [Orphanet] 94 / 7739
27
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: