DISEASE: Intellectual developmental disorder with short stature
Entry
H02346 Disease
Name
Intellectual developmental disorder with short stature
Subgroup
IDD with short stature, facial anomalies, and speech defects (IDDSFAS) IDD with abnormal behavior, microcephaly, and short stature (IDDABS) IDD with short stature and behavioral abnormalities (IDDSSBA) IDD with short stature and variable skeletal anomalies (IDDSSA)
Intellectual developmental disorder (IDD) with short stature is a group of disorders characterized by developmental delay and intellectual disability. Some of them have complications in addition to short stature. Several underlying genetic causes of these diseases have been identified.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
Congenital malformations
Other congenital malformations
H02346 Intellectual developmental disorder with short stature
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
LD90 Conditions with disorders of intellectual development as a relevant clinical feature
H02346 Intellectual developmental disorder with short stature
Ansar M, Paracha SA, Serretti A, Sarwar MT, Khan J, Ranza E, Falconnet E, Iwaszkiewicz J, Shah SF, Qaisar AA, Santoni FA, Zoete V, Megarbane A, Ahmed J, Colombo R, Makrythanasis P, Antonarakis SE
Title
Biallelic variants in FBXL3 cause intellectual disability, delayed motor development and short stature.
de Brouwer APM, Abou Jamra R, Kortel N, Soyris C, Polla DL, Safra M, Zisso A, Powell CA, Rebelo-Guiomar P, Dinges N, Morin V, Stock M, Hussain M, Shahzad M, Riazuddin S, Ahmed ZM, Pfundt R, Schwarz F, de Boer L, Reis A, Grozeva D, Raymond FL, Riazuddin S, Koolen DA, Minczuk M, Roignant JY, van Bokhoven H, Schwartz S
Title
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior.
Ansar M, Chung HL, Al-Otaibi A, Elagabani MN, Ravenscroft TA, Paracha SA, Scholz R, Abdel Magid T, Sarwar MT, Shah SF, Qaisar AA, Makrythanasis P, Marcogliese PC, Kamsteeg EJ, Falconnet E, Ranza E, Santoni FA, Aldhalaan H, Al-Asmari A, Faqeih EA, Ahmed J, Kornau HC, Bellen HJ, Antonarakis SE
Title
Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
