Blepharophimosis intellectual disability syndromes information

Blepharophimosis intellectual disability syndromes are a group of rare genetic disorders which are characterized by blepharophimosis, ptosis, and intellectual...

1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures...

Attention-deficit hyperactivity disorder (ADHD) symptoms Autism spectrum disorders Blepharophimosis Caries Clinodactyly Constipation Delayed tooth eruption Depression...

RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya...

Bartsocas-Papas syndrome 1 Bilateral microtia-deafness-cleft palate syndrome Blepharophimosis - intellectual disability syndrome, MKB type Blepharophimosis - intellectual...

microphthalmia syndrome Autosomal recessive spinocerebellar ataxia 17 Blepharophimosis-impaired intellectual development syndrome Blepharophimosis...

encephalopathy Blepharophimosis-intellectual disability syndrome, Verloes type Bohring-Opitz syndrome Coffin-Siris syndrome Greig cephalopolysyndactyly syndrome Holoprosencephaly...

and impaired intellectual development Autism, susceptibility to, X-linked 2 Blepharophimosis-impaired intellectual development syndrome Cardiac anomalies...

metabolism however. The CDC reviewed nine syndromes that have overlapping features with FAS; however, none of these syndromes include all three FAS facial features...

small jaw, clenched fists with overlapping fingers, and severe intellectual disability. Most cases of trisomy 18 occur due to problems during the formation...

Alacrima, achalasia, and intellectual disability syndrome Blepharophimosis - intellectual disability syndrome, MKB type Cardiac malformation, cleft lip/palate...

Michels syndrome is a syndrome characterised by intellectual disability, craniosynostosis, blepharophimosis, ptosis, epicanthus inversus, highly arched...

glycosylation Barber-Say syndrome Blepharophimosis - intellectual disability syndrome, Verloes type Bohring-Opitz syndrome Cataract - congenital heart...

Kaufman oculocerebrofacial syndrome, also known as blepharophimosis-ptosis-intellectual disability syndrome, is an extremely rare autosomal recessive congenital...

and 11 Intellectual disability, X-linked, syndromic 33 Jackson-Weiss syndrome Keppen-Lubinsky syndrome Kniest dysplasia Larsen-like syndrome, B3GAT3...

numbered syndromic microphthalmies (MCOPS) primarily defined by their ocular manifestations: In addition to MCOPS1–14, there are many genetic syndromes of which...

aortic stenosis pyloric stenosis The facial abnormalities include: blepharophimosis (an abnormally narrow gap between the upper and lower eyelids) maxillary...

a syndrome, such as WAGR syndrome (kidney nephroblastoma (Wilms tumour), genitourinary anomalies and intellectual disability), or Gillespie syndrome (cerebellar...

caudal appendage (a "human tail"), growth deficiency, intellectual and developmental disability, and abnormalities of the renal system (kidneys) and the...

adjustment. Blindness can occur in combination with such conditions as intellectual disability, autism spectrum disorders, cerebral palsy, hearing impairments...

happens to affect central or macular vision will produce a severe visual disability, whereas a large scotoma in the more peripheral part of a visual field...

at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability. The diagnosis is based on ages less than...

midline cerebral abnormalities are more at risk for on-going intellectual and other disabilities. Optic nerve hypoplasia (ONH) is a congenital condition in...