Epilepsy - microcephaly - skeletal dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: Battaglia-Neri syndrome
Number of Symptoms 11
OrphanetNr: 1948
OMIM Id: 601352
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[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:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
2
 (HPO:0000280) Coarse facial features Very frequent [Orphanet] 189 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
5
 (HPO:0002750) Delayed skeletal maturation Very frequent [Orphanet] 250 / 7739
6
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
7
 (HPO:0011362) Abnormal hair quantity Very frequent [Orphanet] 92 / 7739
8
 (HPO:0001007) Hirsutism 91 / 7739
9
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
10
 (OMIM) Normal metabolic screening 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: