SysID database

(syndromic with structural malformations of organs/brain/limbs)

(syndromic without structural malformations)

(non-syndromic)

(classic ID, moderate to severe, fully penetrant)

1 2 3

(classic ID, either mild/borderline or moderate or very variable)

4 5 6

(non-classic ID, either atypical or only rare or minor aspects)

8a 8b

Letter	Feature(s) or organ system
A	short stature
B	microcephaly
C	lethality
E	epilepsy
F	overgrowth/macrocephaly
G	progression/regression
H	neurological symptoms
I	malignancies
J	immunological anomalies
K	endocrine anomalies
L	L1: brain malformations L2: non-structural MRI anomalies
M	metabolic/mitochondrial anomalies
N	obesity
O	vegetative anomalies
P	behavioral anomalies
Q	myopathy (or muscular anomalies)
R	blood cell anomalies
S	ectodoermal anomalies
T	eye anomalies
U	U: skeletal anomalies Ua: limb anomalies Ub: vertebral/skull anomalies Uc: clefts
V	cardiac malformations
W	urogenital and renal anomalies
X	other malformations