Disease #03242 (MACS (MACS syndrome (MACS, macrocephaly, alopecia, cutis laxa, and scoliosis)), OMIM:613075)

Official abbreviation MACS
Name MACS syndrome (MACS, macrocephaly, alopecia, cutis laxa, and scoliosis)
OMIM ID 613075
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene RIN2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00265914 FamPatIII4 PubMed: Shaukat 2019 - F yes Pakistan - - - - - MACS height 111cm (-0.6 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, no alopecia, no scoliosis, no cutis laxa, umbilical hernia, facial coarsening RIN2 BBS7, RIN2 2 1 Sadaf Naz
00265915 FamPatIII5 PubMed: Shaukat 2019 - - yes Pakistan - - - - - MACS height 96cm (-1.3 SD), no polydactyly, no walking difficulties, no speech impairment, no blindness, macrocephaly, alopecia, scoliosis, no cutis laxa, umbilical hernia, facial coarsening RIN2 BBS7, RIN2 2 1 Sadaf Naz
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