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apraxia + An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. (DO)
Asparagine Synthetase Deficiency
Bainbridge-Ropers syndrome
Basel-Vanagaite-Smirin-Yosef syndrome
cerebellar atrophy, visual impairment, and psychomotor retardation
Childhood-Onset Chorea with Psychomotor Retardation
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features
Congenital Cataracts, Hearing Loss, and Neurodegeneration
De Hauwere Leroy Adriaenssens syndrome
Developmental Delay, Epilepsy, and Neonatal Diabetes
diphthamide deficiency syndrome 1
Edinburgh Malformation Syndrome
Glycosylphosphatidylinositol Biosynthesis Defect 15
Growth Retardation, Small and Puffy Hands and Feet, and Eczema
HEART AND BRAIN MALFORMATION SYNDROME
infantile cerebellar-retinal degeneration
Infantile Hypotonia with Psychomotor Retardation +
intellectual developmental disorder with cardiac arrhythmia
Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis
INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD
INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN
Kozlowski Rafinski Klicharska Syndrome
MacDermot Winter Syndrome
Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation
mitochondrial pyruvate carrier deficiency
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay
Okur-Chung Neurodevelopmental Syndrome
Parenti-Mignot Neurodevelopmental Syndrome
Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation
polyhydramnios, megalencephaly, and symptomatic epilepsy
Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism
sepiapterin reductase deficiency
THAUVIN-ROBINET-FAIVRE SYNDROME
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet
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