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Diagnosis of X-linked syndromic intellectual disability (panel)

Despite our efforts to ensure that data is up to date, this activity has not been validated since 15/12/2017
  • Servicio de Genética Clínica
  • Hospital Universitario Fundación Jiménez Díaz
  • Avenida Reyes Católicos, 2
  • 28040 MADRID
  • SPAIN
  • Director of laboratory : -
  • More information
  • Phone : 34 915 50 48 72
  • Additional Phone : -
  • Fax : 34 915 44 87 35
  • Website
Last update: December 2017

Purpose(s)

Antenatal diagnosis
Pre-implantation diagnosis
Post-natal diagnosis

Technical procedure(s)

Molecular genetics
Sequence analysis: entire coding region
NGS sequencing (except WES)

List of diseases and genes (Panel description)

List of diseases tested (89)
Allan-Herndon-Dudley syndrome
Alpha-thalassemia-X-linked intellectual disability syndrome
Atypical Rett syndrome
BRESEK syndrome
Borjeson-Forssman-Lehmann syndrome
Christianson syndrome
Coffin-Lowry syndrome
Corpus callosum agenesis-abnormal genitalia syndrome
Craniofrontonasal dysplasia
Dyskeratosis congenita
FG syndrome type 1
Focal dermal hypoplasia
Fragile X syndrome
Fried syndrome
Frontometaphyseal dysplasia
Glycogen storage disease due to LAMP-2 deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Hamel cerebro-palato-cardiac syndrome
Hoyeraal-Hreidarsson syndrome
Hydrocephalus with stenosis of the aqueduct of Sylvius
Hyperekplexia-epilepsy syndrome
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Incontinentia pigmenti
Isolated complex I deficiency
KDM5C-related syndromic X-linked intellectual disability
Lesch-Nyhan syndrome
Lethal ataxia with deafness and optic atrophy
Lujan-Fryns syndrome
MASA syndrome
MEND syndrome
Melnick-Needles syndrome
Menkes disease
Microphthalmia with linear skin defects syndrome
Microphthalmia, Lenz type
Mild phosphoribosylpyrophosphate synthetase superactivity
Monoamine oxidase A deficiency
Mucopolysaccharidosis type 2, attenuated form
Mucopolysaccharidosis type 2, severe form
Nance-Horan syndrome
Non-specific syndromic intellectual disability
Null syndrome
Opitz GBBB syndrome
Ornithine transcarbamylase deficiency
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Partington syndrome
Pelizaeus-Merzbacher disease in female carriers
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, transitional form
Pyruvate dehydrogenase E2 deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Roifman syndrome
Rolandic epilepsy-speech dyspraxia syndrome
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Severe phosphoribosylpyrophosphate synthetase superactivity
Wilson-Turner syndrome
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 4
X-linked Charcot-Marie-Tooth disease type 5
X-linked centronuclear myopathy
X-linked cerebral adrenoleukodystrophy
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
X-linked creatine transporter deficiency
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
X-linked intellectual disability with isolated growth hormone deficiency
X-linked intellectual disability, Cabezas type
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked intellectual disability, Hedera type
X-linked intellectual disability, Najm type
X-linked intellectual disability, Nascimento type
X-linked intellectual disability, Porteous type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Snyder type
X-linked intellectual disability, Stocco Dos Santos type
X-linked intellectual disability, Sutherland-Haan type
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
X-linked lissencephaly with abnormal genitalia
X-linked myotubular myopathy-abnormal genitalia syndrome
X-linked progressive cerebellar ataxia
X-linked spasticity-intellectual disability-epilepsy syndrome
Xq21 microdeletion syndrome
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.