Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Intellectual disability-severe speech delay-mild dysmorphism syndrome

Mental retardation with language impairment and with or without autistic features is an autosomal dominant syndrome caused by mutations of the FOXP1 gene.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
FOXP1
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Carr CW et al. (2010) Chiari I malformation, delayed gross motor skills, severe speech delay, and epileptiform discharges in a child with FOXP1 haploinsufficiency.

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2.

Hamdan FF et al. (2010) De novo mutations in FOXP1 in cases with intellectual disability, autism, and language impairment.

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3.

Le Fevre AK et al. (2013) FOXP1 mutations cause intellectual disability and a recognizable phenotype.

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4.

Srivastava S et al. (2014) Clinical whole exome sequencing in child neurology practice.

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5.

Sollis E et al. (2016) Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

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6.

Horn D et al. (2010) Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits.

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7.

OMIM.ORG article

Omim 613670 [^]
8.

Orphanet article

Orphanet ID 391372 [^]
Update: April 29, 2019