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(including CNVs and structural chromosome anomalies identified by sequence-based methods such as array, WES and/or WGS)
NM_Nr: *
cDNA change: *
Protein change: *
Genomic position: *
Gene name: *
Hg build: *
Inheritance: *
cDNA change:
Genomic position:
Protein change:
Current Head circumference:
Current Weight:
Current Height:
Head circumference at birth:
Weight at birth:
Length at birth:
Motor delay:
Speech delay:
IQ patient:
Intellectual disabillity:
Severity of intellectual disability:
Other/specify:
Neurological abnormalities: * Specify: *
Behavioral problems: * Specify: *
Brain abnormality: * Specify: *
Abnormality of the ear: * Specify: *
Abnormality of the eye: * Specify: *
Abnormality of the nose: * Specify: *
Abnormality of the mouth: * Specify: *
Abnormal hearing: * Specify: *
Abnormal vision: * Specify: *
Abnormality of the heart: * Specify: *
Gastrointestinal abnormalities: * Specify: *
Abnormality of the urogenital system: * Specify: *
Skeletal abnormalities: * Specify: *
Abnormality of the skin/hair/nails: * Specify: *
Abnormality of the immune system: * Specify: *
Abnormality of the metabolic system: * Specify: *
Abnormality of the endocrine system: * Specify: *
Neoplasia: * Specify: *
Inheritance:
Specify:
Family details:
Fits CSS spectrum:
Patient identifer:
Walking (months):
Sitting (months):
First words (months):
Age onset seizures (years):
Feeding difficulties: Specify: *
Laryngomalacia: Specify: *
Hypothyroidism: Specify: *
Diabetes: Specify: *
Obstructive sleep apnea/apneus: Specify: *
Cryptorchidism: Specify: *
Hypoplastic or absent distal phalanx 5th finger and/or toe: Specify: *
Small or absent nails only 5th finger and/or toe: Specify: *
Small or absent nails all fingers and or toes: Specify: *
MRI performed?:
Agenesis of the corpus callosum: Specify: *
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