Moynahan syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: MOYNAHAN ALOPECIA SYNDROME
Alopecia-epilepsy-oligophrenia syndrome, Moynahan type
Number of Symptoms 15
OrphanetNr: 2574
OMIM Id: 203600
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed: 45167004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Epileptic syndrome
 -Rare genetic disease
 -Rare neurologic disease
Genetic hyperpigmentation of the skin
 -Rare genetic disease
Hyperpigmentation of the skin
 -Rare skin 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 Frequent [Orphanet] 832 / 7739
2
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
5
 (HPO:0002353) EEG abnormality 188 / 7739
6
 (HPO:0008373) Puberty and gonadal disorders Frequent [Orphanet] 156 / 7739
7
 (HPO:0004326) Cachexia Frequent [Orphanet] 71 / 7739
8
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
9
 (HPO:0001596) Alopecia Very frequent [Orphanet] 162 / 7739
10
 (HPO:0008070) Sparse hair 94 / 7739
11
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
12
 (HPO:0000962) Hyperkeratosis Occasional [Orphanet] 216 / 7739
13
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
14
 (OMIM) Delayed hair growth 2 / 7739
15
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: