Mikati-Najjar-Sahli syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Microcephaly - hypergonadotropic hypogonadism - short stature
Number of Symptoms 20
OrphanetNr: 2558
OMIM Id:
ICD-10: E22.8
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: Non-hypogonadotropic hypogonadism
 -Rare endocrine disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0008734) Decreased testicular size Frequent [Orphanet] 105 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
3
 (HPO:0000054) Micropenis Occasional [Orphanet] 257 / 7739
4
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
5
 (HPO:0006482) Abnormality of dental morphology Occasional [Orphanet] 81 / 7739
6
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
7
 (HPO:0000664) Synophrys Very frequent [Orphanet] 112 / 7739
8
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
9
 (HPO:0000341) Narrow forehead Very frequent [Orphanet] 96 / 7739
10
 (HPO:0011039) Abnormality of the helix Very frequent [Orphanet] 33 / 7739
11
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
12
 (HPO:0000771) Gynecomastia Occasional [Orphanet] 53 / 7739
13
 (HPO:0008373) Puberty and gonadal disorders Very frequent [Orphanet] 156 / 7739
14
 (HPO:0002857) Genu valgum Occasional [Orphanet] 144 / 7739
15
 (HPO:0002967) Cubitus valgus Occasional [Orphanet] 49 / 7739
16
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
17
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
18
 (HPO:0001519) Disproportionate tall stature Very frequent [Orphanet] 39 / 7739
19
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
20
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: