Trichorhinophalangeal syndrome type I: MedlinePlus Genetics
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Facial Phenotypes – Kleefstra syndrome
Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)? | Acta Neuropathologica Communications | Full Text
jsbe1 | MedLink Neurology
Neurodevelopment of Children Under 3 Years of Age With Smith-Magenis Syndrome - ScienceDirect
PPT - Elements of Morphology PowerPoint Presentation, free download - ID:9654323
Typical SMS phenotype with 'tented' upper lip and depressed nasal... | Download Scientific Diagram
Characteristic facial weakness with a tented upper lip, mild ptosis and... | Download Scientific Diagram
Myopathic facies - Neurosigns
Smooth Philtrum causes and definition: Learn more
9q22 Deletion - First Familial Case | Orphanet Journal of Rare Diseases | Full Text
Facial Phenotypes – Kleefstra syndrome
Myotonic Dystrophy
Möbius mouth in some cases of autism
MBD5-associated neurodevelopmental disorder: MedlinePlus Genetics
Teaching Video NeuroImages: Shake Mom's hand to get the diagnosis | Neurology
Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K+ channelopathies | European Journal of Human Genetics
Training Module
Vermilion, Upper Lip, U-Shaped
Pitt–Hopkins syndrome - Wikipedia
File:Atr-x.jpg - Wikipedia
Facial Phenotypes – Kleefstra syndrome
Vermilion, Upper Lip, Tented
Clinical features of the 2q23.1 deletion syndrome. (a) Case 1, SMS185... | Download Scientific Diagram
A Newborn Girl with Hypotonia and Respiratory Failure | Pediatric Annals
