TELO2-related intellectual disability-neurodevelopmental disorder(YHFS)

MedGen UID:: 934745
•Concept ID:: C4310778
•: Disease or Syndrome

Synonym:	You-Hoover-Fong syndrome
SNOMED CT:	TELO2-related intellectual disability, neurodevelopmental disorder (1172626003); Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (1172626003); You Hoover Fong syndrome (1172626003)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	TELO2 (16p13.3)

Monarch Initiative:	MONDO:0014848
OMIM®:	616954
Orphanet:	ORPHA488642

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder and impaired balance. Variable manifestations include hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern and seizures. [from SNOMEDCT_US]

Clinical features

From HPO

Hearing impairment

MedGen UID:: 235586
•Concept ID:: C1384666
•: Disease or Syndrome

A decreased magnitude of the sensory perception of sound.

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Cerebellar ataxia

MedGen UID:: 849
•Concept ID:: C0007758
•: Disease or Syndrome

Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).

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Abnormality of movement

MedGen UID:: 10113
•Concept ID:: C0026650
•: Disease or Syndrome

An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.

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Spasticity

MedGen UID:: 7753
•Concept ID:: C0026838
•: Sign or Symptom

A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.

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Global developmental delay

MedGen UID:: 107838
•Concept ID:: C0557874
•: Finding

A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.

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Absent speech