All three children reported by us are homozygous for one single founder mutation, different from that reported in the Turkish child. [experts.umich.edu]

Case 3 (P3, Figure 1D ) is an 11 years old girl of Turkish origin. She presented with delayed motor development at the age of 3 years. Brain MRI was normal. She showed slight facial dysmorphism, hypermobility of the joints and skin laxity. [journals.plos.org]

Recently, the reports of a Turkish patient with CDG-IIc ( 80 ) and of a patient of consanguineous Brazilian descent ( 81 ) were valuable. [nature.com]

puberty-obesity syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked intellectual disability-retinitis pigmentosa syndrome X-linked intellectual disability-seizures-psoriasis syndrome X-linked intellectual disability-spastic [se-atlas.de]

Feeding difficulties leading to failure to thrive is also common. Failure to thrive is defined as the failure to grow and gain weight as would be expected based upon age and gender. [rarediseases.org]

It is characterized by sparse, kinky hair; failure to thrive; and progressive deterioration of the nervous system. [checkrare.com]

The diagnosis should be considered in all patients with failure to thrive, mental retardation, cerebellar hypoplasia, liver dysfunction, or stroke-like episodes. [egl-eurofins.com]

Additionally, these individuals have severe failure to thrive after birth. [themedicalbiochemistrypage.org]

At the age of 8 months she presented with hypotonia, failure to thrive, microcephaly, general developmental delay, hepatosplenomegaly and flexion contractures of all fingers. There was no facial dysmorphism. [ojrd.biomedcentral.com]

Showing of 14 80%-99% of people have these symptoms Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Cognitive impairment Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment [rarediseases.info.nih.gov]

[…] have these symptoms is not available through HPO Abnormality of coagulation Abnormal blood clotting 0001928 Autosomal recessive inheritance 0000007 Coloboma Notched pupil 0000589 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 Hyperreflexia [rarediseases.info.nih.gov]

His special interests include life-threatening asthma, meningitis, traumatic brain injury and the use of bedside ultrasound in the critically ill infant and child. Robert F. [books.google.it]

[…] through HPO Abnormality of coagulation Abnormal blood clotting 0001928 Autosomal recessive inheritance 0000007 Coloboma Notched pupil 0000589 Global developmental delay 0001263 Hepatomegaly Enlarged liver 0002240 Hyperreflexia Increased reflexes 0001347 Hypsarrhythmia [rarediseases.info.nih.gov]

Brain MRI showed multiple, small white matter lesions. Rapid bone maturation and early puberty occurred because of overweight. Clinical features of all patients are furthermore compared in Table 2. [journals.plos.org]