has material basis in germline mutation in HHAT syndromic disease hereditary disease chondrodysplasia-pseudohermaphroditism syndrome https://www.malacards.org/card/nivelon_nivelon_mabille_syndrome DOID:0060644 OMIM:600092 GARD:0016565 SCTID:720851007 MEDGEN:333149 MONDO:0010814 chondrodysplasia-pseudohermaphroditism syndrome Nivelon-Nivelon-Mabille syndrome MESH:C536123 Orphanet:1422 chondrodysplasia-disorder of sex development syndrome UMLS:C1838654 Chondrodysplasia - disorder of sex development is an extremely rare disorder of sex development, reported in only two siblings (one terminated in pregnancy) to date, characterized by the clinical features of 46,XY complete gonadal dysgenesis (normal external female genitalia, lack of pubertal development, primary amenorrhea, and hypergonadotrophic hypogonadism) in association with severe dwarfism with generalized chondrodysplasia (bell-shaped thorax, micromelia, brachydactyly). Other reported features in the live sibling included eye anomalies (hypoplastic irides, myopia, coloboma of optic disks), dysmorphic features (deep-set eyes, upslanting palpebral fissures, puffy eyelids, large ears and mouth, mild prognathism), muscular hypoplasia, mild intellectual deficiency and severe microcephaly with cerebellar vermis hypoplasia. An autosomal recessive inheritance has been suggested. obsolete primary bone dysplasia with micromelia 46 XY differences of sex development