Disease #00825 (MRXSBL;MRX60 (intellectual developmental disorder, X-linked syndromic, Billuart type), OMIM:300486)

Official abbreviation MRXSBL;MRX60
Name intellectual developmental disorder, X-linked syndromic, Billuart type
OMIM ID 300486
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 16
Phenotype entries for this disease 13
Associated with 1 gene OPHN1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2022-11-16 16:06:59 +01:00 (CET)


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00052110 - - - - - - - - - - - MRXSBL;MRX60 - OPHN1 OPHN1 1 1 Talia Schwartz
00052112 - - - - - - - - - - - MRXSBL;MRX60 psychomotor retardation, epilepsy, craniofacial dysmorphism OPHN1 OPHN1 1 1 Talia Schwartz
00052113 - - - - - - - - - - - MRXSBL;MRX60 - OPHN1 OPHN1 1 1 Talia Schwartz
00052130 - PubMed: Billuart 1998, Journal: Billuart 1998 5-generation family, 4 affected males, 7 unaffected heterozygous carrier females M no France - - - - - MRXSBL;MRX60 - OPHN1 OPHN1 1 4 Johan den Dunnen
00052133 - PubMed: Philip 2003, Journal: Philip 2003 2-generation family, 1 affected M no France - - - - - MRXSBL;MRX60 born at term, pregnancy and delivery uneventful; 2y-psychomotor delay; walk-18m, language severely delayed; 11y-brain CT scan retrocerebellar cyst with tentorial dysplasia, small vermis, dilated ventricles requiring ventriculoperitoneal shunting; 13y-dysmorphic features, deeply set eyes, prominent roof nose, prominent chin, OFC 57.5cm (>97th), weight 63kg (>97th), height 158.5cm (50th), poor reading, writing not acquired; according to parents behavioural problems, instability, intolerance to frustration OPHN1 OPHN1 1 1 Johan den Dunnen
00275940 - - - M - - - 12y - - - MICPCH, MRXSBL;MRX60 pontocerebellar hypoplasia - CASK 1 1 Enza Maria Valente
00307050 FamB PubMed: Nuovo 2021 3-generation family, 2 affected males, 3 unaffected heterozygous carrier females M yes - - - - - - MRXSBL;MRX60 Uneventful pregnancy and delivery. Birth weight: 3650 g, birth length: 52 cm, birth head circumference: 34 cm. Neurodevelopmental delay (head control at 6 months, sitting at 10 months, walking unaided at 17 months, first sentences at 4 years) . At school age, poor educational achievement and hyperactive behavior, requiring treatment with methylphenidate. Moderate intellectual disability (full scale IQ 49 on WISC scale). At last follow-up (18.5 years of age) strabismus and mild motor dyspraxia, with no signs of ataxia or pyramidal deficit. Facial dysmorphisms (including long face with prominent forehead, hypothelorism, deep-set eyes, large ears, long and tubular nose, short philtrum, thin upper lip and prominent chin). Symmetrical enlargement of lateral ventricles, cerebellar hypoplasia (mainly affecting the vermis) and inferior vermian dysplasia on brain MRI, with no signs of neuroradiological progression. - OPHN1 1 2 Sara Nuovo
00307068 FamB PubMed: Nuovo 2021 2-generation family, 1 affected, unaffected carrier mother M - Italy - - - - - MRXSBL;MRX60 Uneventful pregnancy and delivery. Developmental delay with prevalent impairment of language skills. Macrocephaly (>97°), slight dysmorphic features (including prominent auricle, thin upper lip, fleshy lower lip, and thinning of the inner third of the eyebrows). Autistic traits, hyperactivity, severe-moderate intellectual disability (IQ 41 with a severe impairment of adaptive skills) and oral dyspraxia. Generalized epilepsy (EEG detecting active multifocal abnormalities), treated with valproic acid. Cerebellar vermis hypoplasia and thin corpus callosum on brain MRI. - OPHN1 1 1 Sara Nuovo
00380821 ? PubMed: Nair 2018 - ? - Lebanon - - - - - MRXSBL;MRX60 ID; cerebellar hypoplasia (Neurological) - OPHN1 1 1 LOVD
00424012 - - - F no China - - - - - MRXSBL;MRX60 intellectual disability (HP:0001249), global developmental delays (HP:0001263), hypertonia (HP:0001276), delayed ability to walk (HP:0031936) CLCN4 CLCN4 1 1 Chunli Wang
00424013 - - - F no - - - - - - MRXSBL;MRX60 intellectual disability (ID) or global developmental delay (GDD), language delay, special microcephaly facial features, esotropia, and hypertonia CLCN4 CLCN4 1 1 Chunli Wang
00424069 - - - F no China - - - - - MRXSBL;MRX60 intellectual disability (HP:0001249), global developmental delays (HP:0001263), hypertonia (HP:0001276), delayed ability to walk (HP:0031936) CLCN4 CLCN4 1 1 Chunli Wang
00424070 - - - F no China - - - - - MRXSBL;MRX60 intellectual disability (HP:0001249), global developmental delays (HP:0001263), hypertonia (HP:0001276), delayed ability to walk (HP:0031936) CLCN4 CLCN4 1 1 Chunli Wang
00424071 - - - F no China - - - - - MRXSBL;MRX60 intellectual disability (HP:0001249), global developmental delays (HP:0001263), hypertonia (HP:0001276), delayed ability to walk (HP:0031936) CLCN4 CLCN4 1 1 Chunli Wang
00431779 206821 - - M ? - - - - - - MRXSBL;MRX60 Neurodevelopmental delay, Delayed speech and language development, Hypotonia, Autism, Enuresis, Encopresis, Intellectual disability, moderate OPHN1 OPHN1 1 1 Andreas Laner
00457093 309905 - - M no ? (unknown) - - - - - MRXSBL;MRX60 Craniosynostosis, Low-set ears, Epicanthus, Scaphocephaly, Exodeviation, Widened subarachnoid space, Delayed myelination, Hypoplasia of the corpus callosum, Inferior cerebellar vermis hypoplasia OPHN1 OPHN1 1 1 Andreas Laner
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