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2025-04-02		(HP:0005272 absent): Prominent nasolabial fold (ORPHA:98022 present): Rare headache
	Prominent nasolabial foldHPO	HP:0005272
	Rare headacheOrphanet	ORPHA:98022
2025-03-04		(HP:0011400 present): Abnormal CNS myelination
	Abnormal CNS myelinationHPO	HP:0011400
2025-01-15		(HP:0003130 present): Abnormal peripheral myelination (HP:0030179 present): Abnormal peripheral action potential amplitude (HP:0030603 present): Abnormal optical coherence tomography (HP:0045010 present): Abnormal peripheral nerve morphology by anatomical site (HP:0100034 present): Motor tics (HP:0410015 present): Abnormal peripheral nervous system ganglion morphology (HP:5200020 present): Abnormal interest in others (ORPHA:2388 present): Choreoacanthocytosis
	Abnormal peripheral myelinationHPO	HP:0003130
	Abnormal peripheral action potential amplitudeHPO	HP:0030179
	Abnormal optical coherence tomographyHPO	HP:0030603
	Abnormal peripheral nerve morphology by anatomical siteHPO	HP:0045010
	Motor ticsHPO	HP:0100034
	Abnormal peripheral nervous system ganglion morphologyHPO	HP:0410015
	Abnormal interest in othersHPO	HP:5200020
	ChoreoacanthocytosisOrphanet	ORPHA:2388
2025-01-10		(HP:0002076 absent): Migraine
	MigraineHPO	HP:0002076
2025-01-07		(HP:4000105 present): Abnormal four chamber view of the fetal heart
	Abnormal four chamber view of the fetal heartHPO	HP:4000105
2024-12-10		(HP:0004363 present): Abnormal circulating calcium concentration (HP:0005272 present): Prominent nasolabial fold (HP:0012100 present): Abnormal circulating creatinine concentration (HP:0031817 present): Decreased circulating parathyroid hormone level
	Abnormal circulating calcium concentrationHPO	HP:0004363
	Prominent nasolabial foldHPO	HP:0005272
	Abnormal circulating creatinine concentrationHPO	HP:0012100
	Decreased circulating parathyroid hormone levelHPO	HP:0031817
2024-12-09		(HP:0003418 present): Back pain
	Back painHPO	HP:0003418
2024-11-26		(HP:0002829 present): Arthralgia (HP:0005059 present): Arthralgia/arthritis (HP:0030120 present): Absent muscle fiber calpain-3 (HP:0030840 present): Ankle pain (HP:0032171 present): Bladder pain
	ArthralgiaHPO	HP:0002829
	Arthralgia/arthritisHPO	HP:0005059
	Absent muscle fiber calpain-3HPO	HP:0030120
	Ankle painHPO	HP:0030840
	Bladder painHPO	HP:0032171
2022-05-10		(HP:0000447 present): Pear-shaped nose (HP:0000486 present): Strabismus (HP:0000508 present): Ptosis (HP:0001263 present): Global developmental delay (HP:0001290 present): Generalized hypotonia (HP:0001382 present): Joint hypermobility (HP:0001508 present): Failure to thrive (HP:0001511 present): Intrauterine growth retardation (HP:0001518 present): Small for gestational age (HP:0004322 present): Short stature
	Pear-shaped noseHPO	HP:0000447
	StrabismusHPO	HP:0000486
	PtosisHPO	HP:0000508
	Global developmental delayHPO	HP:0001263
	Generalized hypotoniaHPO	HP:0001290
	Joint hypermobilityHPO	HP:0001382
	Failure to thriveHPO	HP:0001508
	Intrauterine growth retardationHPO	HP:0001511
	Small for gestational ageHPO	HP:0001518
	Short statureHPO	HP:0004322

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