alopecia - intellectual disability syndrome
http://purl.obolibrary.org/obo/MONDO_0008756
An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia. [ Orphanet:2850 ]
Term info
- DOID:0080627 (MONDO:equivalentTo)
- Orphanet:2850 (OMIM:203650)
- SCTID:716191002 (MONDO:equivalentTo)
- GARD:0000612 (MONDO:equivalentTo)
- OMIMPS:203650 (MONDO:equivalentTo)
ordo_disease
An extremely rare syndrome described in less than 20 families to date and characterized by total or partial alopecia associated with intellectual deficit. The syndrome can be associated with other anomalies such as seizures, sensorineural hearing loss, delayed psychomotor development, and/or hypertonia.
http://purl.obolibrary.org/obo/Orphanet_2850, https://omim.org/phenotypicSeries/PS203650, http://purl.obolibrary.org/obo/DOID_0080627, http://identifiers.org/snomedct/716191002
http://purl.obolibrary.org/obo/MONDO_0000508
Perniola-Krajewska-Carnevale syndrome, alopecia-mental retardation syndrome, alopecia-intellectual disability syndrome
alopecia with severe intellectual deficit, AMR syndrome 1, Amr syndrome, alopecia intellectual disbility syndrome 1
MONDO:0008756