X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
Go to external page http://purl.obolibrary.org/obo/MONDO_0018569
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome is a rare syndromic intellectual disability characterized by hypotonia, microcephaly, severe developmental delay, seizures, intellectual disability, growth retardation, cardiovascular septal defects, cryptorchidism, hypospadias, and dysmorphic features - prominent ears, prognathism, thin upper lip, dental crowding. [ Orphanet:435938 ]
Term information
- UMLS:C5681178 (MONDO:equivalentTo)
- MEDGEN:1812501 (MONDO:equivalentTo)
- Orphanet:435938 (MONDO:equivalentTo)
- GARD:17721 (MONDO:GARD)
gard_rare, ordo_disorder, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare
http://linkedlifedata.com/resource/umls/id/C5681178
http://www.orpha.net/ORDO/Orphanet_435938
http://identifiers.org/medgen/1812501
http://purl.obolibrary.org/obo/MONDO_0015159
http://purl.obolibrary.org/obo/MONDO_0020119