Dysphasia, Familial Developmental

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dysphasia, Familial Developmental

MalaCards integrated aliases for Dysphasia, Familial Developmental:

Name: Dysphasia, Familial Developmental 57 72
Specific Language Impairment 53 72
Developmental Dysphasia Familial 53
Familial Developmental Dysphasia 59
Developmental Language Disorder 53
Billard-Toutain-Maheut Syndrome 59
Language Development Disorders 72
Foxp2-Associated Dysphasia 59


Orphanet epidemiological data:

familial developmental dysphasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;


autosomal dominant


dysphasia, familial developmental:
Inheritance autosomal dominant inheritance


Orphanet: 59  
Rare neurological diseases

External Ids:

OMIM 57 600117
ICD10 via Orphanet 34 F80.1
UMLS via Orphanet 73 C1838630
Orphanet 59 ORPHA1799
MedGen 42 C1838630
UMLS 72 C0023014 C0454651 C1838630

Summaries for Dysphasia, Familial Developmental

NIH Rare Diseases : 53 Developmental dysphasia is a language disorder that develops in children. The disorder typically involves difficulties speaking and understanding spoken words. The symptoms cannot be attributed to sensorimotor, intellectual deficits, autism spectrum, or other developmental impairments. Likewise it does not occur as the consequence of an evident brain lesion or as a result of the child's social environment. Familial cases of developmental dyphasia have been described. In these families, the condition is inherited in an autosomal dominant fashion.

MalaCards based summary : Dysphasia, Familial Developmental, also known as specific language impairment, is related to specific language impairment and specific language impairment 1. The drugs Cerebrolysin and Neuroprotective Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and eye, and related phenotypes are dysphasia and incomprehensible speech

More information from OMIM: 600117

Related Diseases for Dysphasia, Familial Developmental

Diseases related to Dysphasia, Familial Developmental via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 specific language impairment 13.0
2 specific language impairment 1 12.9
3 specific language impairment 4 12.9
4 specific language impairment 5 12.8
5 specific language impairment 2 12.8
6 specific language impairment 3 12.8
7 expressive language disorder 11.5
8 autism 10.7
9 speech and communication disorders 10.6
10 autism spectrum disorder 10.6
11 dyslexia 10.5
12 attention deficit-hyperactivity disorder 10.4
13 down syndrome 10.3
14 developmental coordination disorder 10.2
15 developmental dyspraxia 10.2
16 learning disability 10.2
17 hand skill, relative 10.2
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
19 stuttering 10.1
20 severe early-childhood-onset retinal dystrophy 10.1
21 asperger syndrome 10.1
22 pervasive developmental disorder 10.1
23 aphasia 10.1
24 apraxia 10.1
25 speech disorder 10.1
26 brain injury 10.1
27 specific language disorder 10.1
28 williams-beuren syndrome 10.0
29 cavitary optic disc anomalies 10.0
30 autism 16 10.0
31 alacrima, achalasia, and mental retardation syndrome 10.0
32 47,xyy 10.0
33 foxp2-related speech and language disorders 10.0
34 otitis media 9.8
35 retinitis pigmentosa 11 9.8
36 cortical dysplasia, complex, with other brain malformations 7 9.8
37 dyscalculia 9.8
38 avoidant personality disorder 9.8
39 personality disorder 9.8
40 epilepsy 9.8
41 focal epilepsy 9.8
42 cocaine abuse 9.8
43 specific learning disability 9.8
44 pik3ca-related overgrowth syndrome 9.8
45 cleft palate, isolated 9.8
46 hair whorl 9.8
47 velocardiofacial syndrome 9.8
48 hyperlexia 9.8
49 epilepsy, focal, with speech disorder and with or without mental retardation 9.8
50 fragile x syndrome 9.8

Graphical network of the top 20 diseases related to Dysphasia, Familial Developmental:

Diseases related to Dysphasia, Familial Developmental

Symptoms & Phenotypes for Dysphasia, Familial Developmental

Human phenotypes related to Dysphasia, Familial Developmental:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002357
2 incomprehensible speech 59 32 hallmark (90%) Very frequent (99-80%) HP:0002546
3 expressive language delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0002474

Symptoms via clinical synopsis from OMIM:

developmental dysphasia
specific severe delayed spoken language development

Clinical features from OMIM:


Drugs & Therapeutics for Dysphasia, Familial Developmental

Drugs for Dysphasia, Familial Developmental (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Cerebrolysin Phase 2
2 Neuroprotective Agents Phase 2
3 Nootropic Agents Phase 2
4 Mitogens Phase 2
5 Protective Agents Phase 2
6 Dill Approved
tannic acid Approved 1401-55-4
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
9 Complement System Proteins

Interventional clinical trials:

(show all 37)
# Name Status NCT ID Phase Drugs
1 Effectiveness of a Parent-Based Language Intervention Group Program for Two-Year-Old Children With Language Delay Unknown status NCT00625261 Phase 3
2 A Comparison of Language Intervention Programs Completed NCT00033150 Phase 3
3 Effect of Nerve Growth Factor (Cerebrolysin) Therapy on Neurodevelopment, Sleep Pattern and Quality of Life in Children With Traumatic Brain Injury and Cerebral Palsy Unknown status NCT02116348 Phase 2 Cerebrolysin (Nerve growth factor)
4 Building Complex Language: Effect of Treatment and Dosage Completed NCT01337232 Phase 1, Phase 2
5 Maximizing Outcomes for Preschoolers With Developmental Language Disorder: Testing the Effects of a Sequentially Targeted Naturalistic Intervention. Recruiting NCT03782493 Phase 2
6 An RCT of a Low-Intensity Intervention to Reduce Delay Unknown status NCT00110292 Phase 1
7 Participant Database for Persons Interested in Autism Research Studies: Recruiting, Pre-Screening and Diagnostic Assessment Unknown status NCT00549731
8 Psychophysics and Neurodynamic MEG/EEG Imaging of Sensory and Connectivity Abnormalities in Neurodevelopmental Disorders. Unknown status NCT00956579
9 Pivotal Response Treatment for Individuals With Intellectual Disabilities Completed NCT01988623
10 Experimental Word Learning in Children With Normal Development and Children With Language Impairment Completed NCT00607334
11 Evaluating Treatment Efficacy of Two Syntactic Treatment Procedures for Children With Specific Language Impairment (SLI): A Randomized Controlled Trial Completed NCT01765348
12 Augmentative and Alternative Communication and Lexical Gain in Children With Down Syndrome: Pilot Study Completed NCT00689988
13 Long-term Use Benefits of Personal Frequency-modulated Systems for Speech in Noise Perception in Stroke Patients With Auditory Processing Deficits- 'a Non-randomised Completed NCT02889107
14 Evaluation of the Central Auditory Processing in Patients (Elder Than 45 Years Old) With Bilateral Sensorineural Hearing Loss and the Change of the Central Auditory Processing Ability by the Use of Hearing Aids (CAPHA) Completed NCT01897181
15 Pilot Study: The Effectiveness of Computerized Auditory Training Programme on Children With Auditory Processing Disorder Completed NCT02111343
16 Developmental Intervention for Infants of Adolescent Mothers Completed NCT03547492
17 Cochlear Implantation in Single Sided Deafness and Asymmetrical Hearing Loss: a Cost/Utility Study. Completed NCT02204618
18 Central Auditory Processing Disorders Associated With Blast Exposure Completed NCT00554801
19 Improving STEM Outcomes for Young Children With Language Learning Disabilities by Intervening at the Intersection of Language and Scientific Thought. Recruiting NCT03438760
20 Interactive Book Reading to Accelerate Word Learning by Children With SLI Recruiting NCT03586479
21 Parent-Level Predictors of Early Language Interaction Quality and Intervention Outcomes Recruiting NCT03525951
22 Manipulating Linguistic Complexity to Improve Child Language Treatment Outcomes Recruiting NCT03977701
23 Coding and Memorisation of Phonologic Information Among Preschool and School Children With Oral Language Developement Disorder. Recruiting NCT02609542
24 Strategies for Teaching Verbs Recruiting NCT03441685
25 Characterization of Ascending and Descending Auditory Processing Involved in the Encoding of Speech Sounds in Adult and Children: Variability Related to Changes in Sensory Input or a Neurodevelopmental Disorder or Targeted Remediation Recruiting NCT02574299
26 Early UVFP Management Based on Neurological Evidences (UVFP = Unilateral Vocal Fold Paralysis) (ION-UVFP) - Preliminary Study Recruiting NCT03966183
27 Age-related Correlates of Treatment Efficacy and Efficiency for Late-acquired Sounds Recruiting NCT03663972
28 Interactive Book Reading to Accelerate Word Learning by Children With SLI Recruiting NCT01829360
29 Perceptual Learning and Memory Consolidation in Adults With and Without Language Impairment Recruiting NCT03609502
30 Parent-implemented Intervention for Very Preterm Children With Language Delay Recruiting NCT02042235
31 Efficacy of the Direct Instruction Language for Learning Program to Promote Expressive and Receptive Language in Children With Autism Spectrum Disorder Recruiting NCT02483910
32 Shape Bias Training as a Vocabulary Intervention for Late Talkers Recruiting NCT03379818
33 Influence of a Intervention Break on a Treated Phonological Process in Spontaneous Speech Situations in Children Aged 5 to 6 Years With Phonologically Delayed Development Recruiting NCT03972891
34 Promoting Early School Readiness in Primary Health Care Active, not recruiting NCT00212576
35 EMT en Español: Comprehensive Early Intervention to Support School Readiness Skills for Spanish-speaking Toddlers With Language Delays Not yet recruiting NCT04066049
36 Bridging Connections: A Language Intervention Study of Preterm Infants in the NICU Not yet recruiting NCT03688386
37 Identification of Hereditary Auditory Temporal Processing Deficits Terminated NCT00004570

Search NIH Clinical Center for Dysphasia, Familial Developmental

Genetic Tests for Dysphasia, Familial Developmental

Anatomical Context for Dysphasia, Familial Developmental

MalaCards organs/tissues related to Dysphasia, Familial Developmental:

Brain, Testes, Eye, Cortex, Cerebellum, Temporal Lobe, Thalamus

Publications for Dysphasia, Familial Developmental

Articles related to Dysphasia, Familial Developmental:

(show top 50) (show all 1608)
# Title Authors PMID Year
An extended family with a dominantly inherited speech disorder. 8
2332125 1990
Feature-blind grammar and dysphagia. 8
2330028 1990
Language disabilities in three twin pairs and their relatives. 8
4050301 1985
A genome-wide analysis in consanguineous families reveals new chromosomal loci in specific language impairment (SLI). 38
30976110 2019
Subject-Aux Inversion in Children with SLI. 38
30945043 2019
Dismantling the "Visual Ease Assumption:" A Review of Visual Narrative Processing in Clinical Populations. 38
31373182 2019
The Relationship Between Language and Planning in Children With Language Impairment. 38
31343936 2019
Spoken language development in school-aged children with cochlear implants as compared to hard-of-hearing children and children with specific language impairment. 38
31048113 2019
De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment. 38
31326210 2019
Visual and verbal semantic productions in children with ASD, DLD, and typical language. 38
31351344 2019
Executive control in language production by children with and without language impairment. 38
30920093 2019
A View of the Lexical-Grammatical Link in Young Latinos With Specific Language Impairment Using Language-Specific and Conceptual Measures. 38
31112438 2019
Procedural learning across the lifespan: A systematic review with implications for atypical development. 38
28990357 2019
Left hemisphere enhancement of auditory activation in language impaired children. 38
31235763 2019
Similarities and differences in the lexical-grammatical relation of young dual language learners with and without specific language impairment. 38
31092018 2019
Linguistic Contributions to Word-Level Spelling Accuracy in Elementary School Children With and Without Specific Language Impairment. 38
31136239 2019
Nonword Repetition Across Two Dialects of English: Effects of Specific Language Impairment and Nonmainstream Form Density. 38
31046563 2019
Exploring gender as a potential source of bias in adult judgments of children with specific language impairment and attention-deficit/hyperactivity disorder. 38
31147086 2019
Contribution of reading an e-book with a dictionary to word learning: Comparison between kindergarteners with and without SLI. 38
30974294 2019
Word Retrieval Difficulties and Cognitive Control in Specific Language Impairment. 38
30986144 2019
Speech-Language Pathologists' Clinical Decision Making for Children With Specific Language Impairment. 38
30969904 2019
The use of evaluative expressions in the narratives of adolescents with a history of SLI. 38
31017004 2019
The Impact of Manipulating Attentional Shifting Demands on Preschool Children With Specific Language Impairment. 38
30950694 2019
Case marking in German-speaking children with specific language impairment and with phonological impairment. 38
30183450 2019
Morphophonology and compensation in Specific Language Impairment: Evidence from Standard Modern Greek and Cypriot Greek. 38
30102084 2019
Specific Language Impairment and Reading Disability: Categorical Distinction or Continuum? 38
29790413 2019
Characterizing the Motor Skills in Children with Specific Language Impairment. 38
30541007 2019
Referential Cohesion in the Narratives of Bilingual and Monolingual Children With Typically Developing Language and With Specific Language Impairment. 38
30950755 2019
When morphological ability exceeds syntactic ability: A case study. 38
31274361 2019
Psychometric Evaluation of Lexical Diversity Indices in Spanish Narrative Samples From Children With and Without Developmental Language Disorder. 38
30950757 2019
A multi-group approach to examining language development in at-risk learners. 38
30221620 2019
The production of wh-questions in Italian-speaking children with SLI. 38
30239228 2019
Concise tool based on language milestones identifies children with specific language impairment at 24-45 months of age. 38
30256455 2018
The Promise-and Challenge-of Statistical Learning for Elucidating Atypical Language Development. 38
30587882 2018
[Use of the 2D:4D digit ratio as a biological marker of specific language disorders]. 38
29625804 2018
Language Skill Mediates the Relationship Between Language Load and Articulatory Variability in Children With Language and Speech Sound Disorders. 38
30515517 2018
Children with specific language impairment are more likely to reach motor milestones late. 38
30155913 2018
Children with mixed developmental language disorder have more insecure patterns of attachment. 38
30442175 2018
[Multilingual children and language impairment]. 38
30095349 2018
Nonword repetition depends on the frequency of sublexical representations at different grain sizes: Evidence from a multi-factorial analysis. 38
29902629 2018
Discriminating autism and language impairment and specific language impairment through acuity of musical imagery. 38
29913330 2018
Morphosyntax Production of Preschool Children With Hearing Loss: An Evaluation of the Extended Optional Infinitive and Surface Accounts. 38
30208485 2018
The linguistic constraint on contraction in children with SLI. 38
29940484 2018
German dative case marking in monolingual and simultaneous bilingual children with and without SLI. 38
30031237 2018
An Application of Network Science to Phonological Sequence Learning in Children With Developmental Language Disorder. 38
30167667 2018
Effects of Specific Language Impairment on a Contrastive Dialect Structure: The Case of Infinitival TO Across Various Nonmainstream Dialects of English. 38
30073252 2018
Implicit learning seems to come naturally for children with autism, but not for children with specific language impairment: Evidence from behavioral and ERP data. 38
29676529 2018
Immature Auditory Evoked Potentials in Children With Moderate-Severe Developmental Language Disorder. 38
29974119 2018
Identifying language impairment in bilingual children in France and in Germany. 38
29790243 2018
Thinking or feeling? An exploratory study of maternal scaffolding, child mental state talk, and emotion understanding in language-impaired and typically developing school-aged children. 38
28984350 2018

Variations for Dysphasia, Familial Developmental

Expression for Dysphasia, Familial Developmental

Search GEO for disease gene expression data for Dysphasia, Familial Developmental.

Pathways for Dysphasia, Familial Developmental

GO Terms for Dysphasia, Familial Developmental

Sources for Dysphasia, Familial Developmental

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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