Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay, commonly known by the acronym SHORT syndrome, is a rare disorder ...

Microcephaly, seizures, and developmental delay (MCSZ) is a condition characterized by an abnormally small head size (microcephaly) and neurological problems related ...

SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.All people with this ...

... syndrome is a developmental disorder characterized by developmental delay, intellectual disability, and minor differences in facial features. ... birth (congenital heart defects).Intellectual disability and developmental delay are usually moderate to severe in people with ...

... their fingerprints. Adermatoglyphia has been called the "immigration delay disease" because affected individuals have had difficulty entering ... the condition. Absence of fingerprints ADERM ADG Immigration delay disease Isolated congenital adermatoglyphia National Organization for Rare ...

... a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial ...

... is a condition characterized by intellectual disability, developmental delay, distinctive facial features, and brain abnormalities.Most people ... defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development MCTT syndrome Genetic Testing ...

... a chromosomal condition that causes intellectual disabilities, developmental delays, changes in sex characteristics and other physical features, ... muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, ...

... boys and men that causes intellectual disability, developmental delays, physical differences, and an inability to father biological ... muscle tone (hypotonia) and problems with coordination that delay the development of motor skills, such as sitting, ...

... neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic ... WK. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features. Neurogenetics. 2016 Jul; ...