Disease #01104 (Skeletal defects, genital hypoplasia, and mental retardation, OMIM:612447)

Official abbreviation -
Name Skeletal defects, genital hypoplasia, and mental retardation
OMIM ID 612447
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 1
Associated with 1 gene ZBTB16
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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00267246 - - - M yes Pakistan - - - - - Skeletal defects, genital hypoplasia, and mental retardation - TMEM251 TMEM251 1 1 Noor-ul-ain Ain
00436152 22-002056 srcskel - - - - - - - - - - Skeletal defects, genital hypoplasia, and mental retardation hypotonia, severe scoliosis, arched palate, dental crowding, short lingual frenulum, moderately long fingers, musculoskeletal defects, behavioral abnormalities SRCAP SRCAP 1 1 Lucia Micale
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