Zentrum für Syndromale Entwicklungsstörungen am Universitätsklinikum Heidelberg Assigned diseases:
In the following you will find the diseases that are treated in this facility:
10q22.3q23.3 microdeletion syndrome
11q22.2q22.3 microdeletion syndrome
12p12.1 microdeletion syndrome
12q14 microdeletion syndrome
12q15q21.1 microdeletion syndrome
13q12.3 microdeletion syndrome
14q11.2 microdeletion syndrome
14q22q23 microdeletion syndrome
14q24.1q24.3 microdeletion syndrome
15q11.2 microdeletion syndrome
15q13.3 microdeletion syndrome
15q24 microdeletion syndrome
16p11.2p12.2 microdeletion syndrome
16p13.11 microdeletion syndrome
16q24.1 microdeletion syndrome
16q24.3 microdeletion syndrome
17q11 microdeletion syndrome
17q12 microdeletion syndrome
17q21.31 microdeletion syndrome
17q23.1q23.2 microdeletion syndrome
19p13.12 microdeletion syndrome
19p13.13 microdeletion syndrome
19q13.11 microdeletion syndrome
1p21.3 microdeletion syndrome
1p31p32 microdeletion syndrome
1p35.2 microdeletion syndrome
1q21.1 microdeletion syndrome
1q41q42 microdeletion syndrome
1q44 microdeletion syndrome
20p12.3 microdeletion syndrome
20p13 microdeletion syndrome
20q11.2 microdeletion syndrome
20q13.33 microdeletion syndrome
21q22.11q22.12 microdeletion syndrome
22q11.2 deletion syndrome
2p13.2 microdeletion syndrome
2p15p16.1 microdeletion syndrome
2p21 microdeletion syndrome
2p21 microdeletion syndrome without cystinuria
2q23.1 microdeletion syndrome
2q24 microdeletion syndrome
2q31.1 microdeletion syndrome
2q32q33 microdeletion syndrome
2q37 microdeletion syndrome
3p25.3 microdeletion syndrome
3q13 microdeletion syndrome
3q26q27 microdeletion syndrome
3q27.3 microdeletion syndrome
3q29 microdeletion syndrome
4q21 microdeletion syndrome
5q14.3 microdeletion syndrome
6p22 microdeletion syndrome
6q16 microdeletion syndrome
6q25 microdeletion syndrome
7q31 microdeletion syndrome
8p11.2 deletion syndrome
8p23.1 microdeletion syndrome
8q21.11 microdeletion syndrome
8q22.1 microdeletion syndrome
9p13 microdeletion syndrome
9q31.1q31.3 microdeletion syndrome
Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
Cohen syndrome
Contractures-developmental delay-Pierre Robin syndrome
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Diencephalic-mesencephalic junction dysplasia
Distal 16p11.2 microdeletion syndrome
Distal 17p13.1 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome
Distal 22q11.2 microdeletion syndrome
Distal 7q11.23 microdeletion syndrome
Distal deletion 6p
Encephaloclastic disorder
FOXG1 syndrome due to 14q12 microdeletion
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Fragile X syndrome
Hemimegalencephaly
Homozygous 2p21 microdeletion syndrome
Isolated arhinencephaly
Isolated congenital microcephaly
Megalencephaly
Midline cerebral malformation
Monosomy 9q22.3
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Non-syndromic cerebral malformation
Non-syndromic cerebral malformation due to abnormal neuronal migration
Paternal 20q13.2q13.3 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Rare chromosomal anomaly
Rare developmental defect during embryogenesis
Rare pervasive developmental disorder
Rett syndrome
SATB2-associated syndrome due to a chromosomal rearrangement
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Smith-Magenis syndrome
Sporadic fetal brain disruption sequence
Temple syndrome due to paternal 14q32.2 microdeletion