Patient | Birth year | Intellectual disability | ADIR classification | Seizure episode | Dysmorphic features | Functional language | Other medically relevant conditions | Molecular diagnosis | Specific ASD overrepresented pathways |
---|---|---|---|---|---|---|---|---|---|
ASD_1 | 1992 | Severe | AUT | No | No | No | Obesity | CDKL5 (p. P647L) | Â |
ASD_2 | 1995 | Severe | PDD-NOS | No | No | No | Hypermetropia | Â | Agrin in postsynaptic differentiation |
Elastic fiber formation | |||||||||
 |  |  |  |  |  |  |  |  | Erk and pi-3 kinase for collagen binding in corneal epithelia |
 |  |  |  |  |  |  |  |  | Integrin cell surface interactions |
 |  |  |  |  |  |  |  |  | Molecules associated with elastic fibers |
 |  |  |  |  |  |  |  |  | Ucalpain and friends in cell spread |
ASD_3 | 1993 | Mild | AUT | Yes | No | No | Â | Â | Â |
ASD_4 | 1995 | Mild | AUT | Yes | No | No | Â | Â | Â |
ASD_5 | 1997 | Moderate | AUT | No | No | Yes | ADHD | SCN2A (p.R583X) | Â |
ASD_6 | 1998 | Mild | AUT | No | No | Yes | Â | Â | Â |
ASD_7 | 1999 | Mild | BS | No | Yes | Yes | Sleep disturbance, ADHD | CUL3 (p.H719R) | Â |
ASD_8 | 1991 | None | AUT | No | No | Yes | Â | Â | Integrin cell surface interactions |
ASD_9 | 2000 | Moderate | AUT | No | No | No | Â | Â | Â |
ASD_10 | 2000 | Severe | AUT | No | No | No | Â | Â | Â |
ASD_11 | 1999 | Severe | AUT | No | Yes | No | Sleep disturbance, hypotonia, umbilical hernia | MED13L (c.1708_1709delAG) | Â |
ASD_12 | 2002 | Moderate | AUT | No | Yes | No | ADHD | Â | Â |
ASD_13 | 2001 | None | AUT | No | No | Yes | Â | Â | Elastic fiber formation |
Signaling events mediated by HDAC class II | |||||||||
 |  |  |  |  |  |  |  |  | Sumoylation by RanBP2 in transcriptional repression |
ASD_14 | 2000 | Severe | AUT | No | No | No | ADHD | KCNV1 (c.1391_1392delAT) | Â |
ASD_15 | 2001 | Mild | AUT | Yes | Yes | Yes | Â | Â | Â |
ASD_16 | 2001 | Moderate | AUT/PDD-NOS | Yes | No | Yes | Mild psychosis, aggressive behavior | MAOA (c.1438-2A > G) |  |
ASD_17 | 2000 | Â | AUT | No | Â | Yes | Â | Â | Beta1 integrin cell surface interactions |
 |  |  |  |  |  |  |  |  | Beta3 integrin cell surface interactions |
 |  |  |  |  |  |  |  |  | Integrin cell surface interactions |
 |  |  |  |  |  |  |  |  | Integrins in angiogenesis |
 |  |  |  |  |  |  |  |  | Signaling by PDGF |
ASD_18 | 2003 | Â | BS | No | Â | No | Â | Â | Axon guidance |
 |  |  |  |  |  |  |  |  | NCAM signaling for neurite out-growth |
 |  |  |  |  |  |  |  |  | Ucalpain and friends in cell spread |
ASD_19 | 2001 | Â | AUT | No | Â | No | Â | Â | Beta3 integrin cell surface interactions |
 |  |  |  |  |  |  |  |  | Integrin cell surface interactions |
 |  |  |  |  |  |  |  |  | Signaling by PDGF |
ASD_20 | 1998 | Â | AUT | No | Â | No | Â | Â | Elastic fiber formation |
 |  |  |  |  |  |  |  |  | Huntington’s disease |
 |  |  |  |  |  |  |  |  | Molecules associated with elastic fibers |
ASD_21 | 1997 | Severe | AUT | No | Yes | No | Sleep disturbance | Â | Â |
ASD_22 | 2000 | Moderate | AUT | No | No | No | Â | Â | Â |
ASD_23 | 2005 | None | AUT | No | No | NO | Â | Â | Â |
ASD_24 | 2000 | Severe | AUT | Yes | No | No | ADHD | Â | Â |
ASD_25 | 2002 | Mild | AUT | No | Yes | Yes | Â | Â | Â |
ASD_26 | 2000 | Mild | AUT | Yes | No | No | Â | Â | PI3K-Akt signaling pathway |
ASD_27 | 2005 | Â | AUT | No | Â | No | Trimethylaminuria | Â | Beta1 integrin cell surface interactions |
 |  |  |  |  |  |  |  |  | Erk and pi-3 kinase for collagen binding in corneal epithelia Integrins in angiogenesis |
 |  |  |  |  |  |  |  |  | PI3K-Akt signaling pathway |
 |  |  |  |  |  |  |  |  | Scavenging by class A receptors |
 |  |  |  |  |  |  |  |  | Striated muscle contraction |
ASD_28 | 1995 | Â | AUT | Yes | Â | No | Moderate obesity, myopia | Â | Scavenging by class A receptors |
 |  |  |  |  |  |  |  |  | Signaling events mediated by HDAC Class II |
 |  |  |  |  |  |  |  |  | Sumoylation by RanBP2 in transcriptional repression Superpathway of cholesterol biosynthesis |
ASD_29 | 1999 | Severe | AUT | No | No | No |  |  | Huntington’s disease |
ASD_30 | 1997 | Severe | AUT | Yes | No | No | Â | Â | Termination of O-glycan biosynthesis |
ASD_31 | 2008 | None | AUT | No | No | Yes | Â | Â | Striated muscle contraction |
ASD_32 | 2004 | Mild | AUT | No | No | Yes | Â | Â | Â |
ASD_33 | 1990 | Â | AUT | No | Â | No | Â | Â | Agrin in postsynaptic differentiation |
 |  |  |  |  |  |  |  |  | L1CAM interactions |
 |  |  |  |  |  |  |  |  | Ucalpain and friends in cell spread |
ASD_34 | 2001 | Â | AUT | No | Â | Yes | Â | Â | Superpathway of cholesterol biosynthesis |
 |  |  |  |  |  |  |  |  | Termination of O-glycan biosynthesis |
ASD_35 | 2003 | Â | PDD-NOS | No | Â | Yes | Â | Â | Axon guidance |
 |  |  |  |  |  |  |  |  | Integrin cell surface interactions |
 |  |  |  |  |  |  |  |  | L1CAM interactions |
 |  |  |  |  |  |  |  |  | NCAM signaling for neurite out-growth |
ASD_36 | 1999 | Severe | AUT | No | No | No | Macrocephaly | PTEN (c.239-21G > C) |  |