Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures Short Stature, Mental Retardation, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting SHORT syndrome SIFRIM-HITZ-WEISS SYNDROME Simpson-Golabi-Behmel [rgd.mcw.edu]

Mild to moderate intellectual disability Delayed speech development Weak muscle tone Short stature Loose joints Distinct facial features: widely set eyes, downward-pointing outer corners of the eyes, broad eyebrows, high front hairline, broad nasal bridge [patientworthy.com]

Variables and measurements First, we determined which children had each of these phenotypes: male gender, developmental delay, low birth weight/intrauterine growth restriction, short stature, obesity, microcephaly, feeding difficulties, long face, facial [peerj.com]

Patients have mainly short stature due to haploinsufficiency of the IGF1R gene. 15q26.1 Deletion. Intractable epilepsy, ID and short stature. Chromosome 16 16p11.2 Deletion/Duplication. [scielo.br]

He has short stature and relatively mild intellectual disability with good language skills as an adult [1]. [ojrd.biomedcentral.com]

[…] amelogenesis imperfecta type 1A amelogenesis imperfecta type 1B amelogenesis imperfecta type 3A amelogenesis imperfecta type 3B amelogenesis imperfecta type 4 Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis Amyloidosis [rgd.mcw.edu]

lentis 1 autosomal dominant keratitis autosomal dominant limb-girdle muscular dystrophy autosomal dominant macrothrombocytopenia TUBB1-related autosomal dominant mental retardation 50 autosomal dominant mental retardation 55 autosomal dominant mental [rgd.mcw.edu]

The eight phenotypes that showed discrepancies with the previous study (Magoulas & El-Hattab, 2012) were facial asymmetry, high anterior hairline, hypertelorism, broad nasal base, hypospadias, microphallus, thumb abnormalities, and clynodactyly, all of [peerj.com]

[…] thumbs long, slender fingers digital abnormalities, variable more Head And Neck Nose: depressed nasal bridge broad nasal bridge high nasal bridge flaring of nasal alae wide, short nose Genitourinary External Genitalia Male: cryptorchidism hypospadias microphallus [malacards.org]

Genital abnormalities are reported in a majority of individuals (60%) and include hypospadias, microphallus, and cryptorchidism. [ojrd.biomedcentral.com]

[…] facial dysmorphism, hearing loss, hypotonia, recurrent infection, and other congenital malformations including microcephaly, scoliosis, joint laxity, digital anomalies, as well as sometimes having autism spectrum disorder (ASD) and attention deficit hyperactivity [onlinelibrary.wiley.com]

Varying degrees of intellectual disability, typically in the range of mild to moderate in severity, have been reported in nearly all individuals, while behavior challenges such as aggression, hyperactivity, autistic behaviors, and attention deficit disorder [my46.org]

[…] basal cisterna Dysplastic corpus callosum and transected pituitary stalk, hypoplasia of the adenohypophysis and ectopic neurohypophysis Not tested Not tested Hearing loss Moderate conductive hearing loss and tinnitus Deaf in left ear Additional details Hyperactive [academic.oup.com]

[…] hypospadias microphallus Head And Neck Head: microcephaly high forehead Neurologic Central Nervous System: intellectual disability, mild hypotonia enlarged ventricles mental retardation seizures (rare) more Neurologic Behavioral Psychiatric Manifestations: hyperactivity [malacards.org]

Behavior abnormalities, such as autism, hyperactivity, aggression, and attention deficit disorder have been reported in 37% individuals with 15q24 deletion syndrome. [ojrd.biomedcentral.com]

PAIN THRESHOLD INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES [rgd.mcw.edu]

Quadriplegia, Retinitis Pigmentosa, and Mental Retardation speech-language disorder-1 spermatogenic failure 10 spermatogenic failure 11 spermatogenic failure 12 spermatogenic failure 2 spermatogenic failure 3 spermatogenic failure 4 spermatogenic failure [rgd.mcw.edu]