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Advanced Neurology Genetics of neurodevelopmental disorders in Mexico

Table 1. (Continued)
No. Gender Age of Epilepsy ASD ADHD CD MD ID Dysmorphism Dysfunction Definitive diagnosis Familial
onset (Gene) study
8 θ M 3 years X X X Palpebral ptosis Progressive motor Duchenne muscular Mother
dysfunction dystrophy (DMD)
9 θ M At birth X X X X Nevus/lentigines Progressive motor Duchenne muscular Mother
dysfunction dystrophy (DMD, Grandmother
VUS in RAF1) 2 sisters
2 daughters
10 θ M 5 years X X X Progressive motor Duchenne muscular -
dysfunction dystrophy (DMD)
11 θ F At birth X X X Macrocephaly Language impairment Cowden syndrome 2 Parents
(PTEN) 1 Sister
12 θ F 7 months X X X Facial Language impairment Atypical Rett 2 Parents
dysmorphism syndrome, Zappella
variant (MECP2)
13 θ M At birth X X Skin and limbs Discalculia Neurofibromatosis -
type I (NF1)
14 θ F At birth X X Facial and limbs Language impairment PURA syndrome 2 Parents
(PURA)
15 δ F At birth X X Limbs extensión/ Motor and language Congenital -
Nevus flammeus delay amyoplasia (COLQ
heterozygous)
Susceptibility
to Myasthenic
syndrome
16 δ F 3 years X X X Facial Language and social ASD with 2 parents
dysmorphism skills delay comorbidities
(epilepsy) possible
susceptibility
(DMXL2, double
VUS in cis)
17 δ M 3 years X X Facial Language impairment ASD -
dysmorphism and Aggressiveness Possible susceptibility
cranial (DMXL2, VUS
dominant)
18 δ M 10 X X Macrocephaly Leukoencephalopathy ASD with -
months comorbidities
(BRAF,
disruptive-dominant;
VUS in ADAR)
19 δ M At birth X X Macrocephaly Epilepsy with febrile Possible -
crisis Aggressiveness channelopathy
(SNCA8, VUS
dominant)
20 δ M 1 year X X X Clinodactyly Pelvic girdle weakness Hypermobility 2 Parents
(affecting the Sensoperceptive spectrum disorder
pinky finger) disorder (CHRNB1 VUS
dominant splicing
disruption)
21 δ F 1 year X X Inverted nipples Motor delay Glycosylation -
(PMM2,
pathogenically
heterozygous)
(Cont’d...)

Volume 3 Issue 2 (2024) 4 doi: 10.36922/an.3359