Say-Barber-Miller syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Microcephaly - hypogammaglobulinemia - abnormal immunity
Number of Symptoms 41
OrphanetNr: 3132
OMIM Id: 251240
ICD-10: Q87.8
UMLs: C2931267
MeSH: C536618
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Unknown
[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
Other immunodeficiency syndrome with predominantly antibody defects
 -Rare genetic disease
 -Rare immune 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:0000316) Hypertelorism Occasional [Orphanet] 644 / 7739
2
 (HPO:0000510) Rod-cone dystrophy Frequent [Orphanet] 266 / 7739
3
 (HPO:0100578) Lipoatrophy Very frequent [Orphanet] 30 / 7739
4
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
5
 (HPO:0010978) Abnormality of immune system physiology Very frequent [Orphanet] 148 / 7739
6
 (HPO:0010701) Abnormal immunoglobulin level Very frequent [Orphanet] 49 / 7739
7
 (HPO:0005432) Transient hypogammaglobulinemia of infancy 1 / 7739
8
 (HPO:0005352) Severe T-cell immunodeficiency Very frequent [Orphanet] 20 / 7739
9
 (HPO:0002719) Recurrent infections 107 / 7739
10
 (HPO:0004209) Clinodactyly of the 5th finger Occasional [Orphanet] 288 / 7739
11
 (HPO:0009465) Ulnar deviation of finger Occasional [Orphanet] 48 / 7739
12
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
13
 (HPO:0003045) Abnormality of the patella Very frequent [Orphanet] 33 / 7739
14
 (HPO:0003065) Patellar hypoplasia 8 / 7739
15
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
16
 (HPO:0000347) Micrognathia 426 / 7739
17
 (HPO:0001363) Craniosynostosis Frequent [Orphanet] 132 / 7739
18
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
19
 (HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
20
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
21
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
22
 (HPO:0005930) Abnormality of epiphysis morphology Very frequent [Orphanet] 119 / 7739
23
 (HPO:0100840) Aplasia/Hypoplasia of the eyebrow Occasional [Orphanet] 117 / 7739
24
 (HPO:0000135) Hypogonadism 89 / 7739
25
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
26
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
27
 (HPO:0000582) Upslanted palpebral fissure Occasional [Orphanet] 185 / 7739
28
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
29
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
30
 (HPO:0000670) Carious teeth Occasional [Orphanet] 145 / 7739
31
 (HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
32
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
33
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
34
 (HPO:0000400) Macrotia 108 / 7739
35
 (HPO:0000411) Protruding ear Very frequent [Orphanet] 140 / 7739
36
 (HPO:0000964) Eczema Very frequent [Orphanet] 81 / 7739
37
 (HPO:0001371) Flexion contracture 220 / 7739
38
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
39
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
40
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
41
 (OMIM) Defective chemotaxis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: