Delayed speech and language development, and Intellectual disability, mild

Diseases related with Delayed speech and language development and Intellectual disability, mild

In the following list you will find some of the most common rare diseases related to Delayed speech and language development and Intellectual disability, mild that can help you solving undiagnosed cases.


Top matches:

High match SECKEL SYNDROME 6; SCKL6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature


SOURCES: UMLS DOID OMIM MONDO

More info about SECKEL SYNDROME 6; SCKL6

High match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2 Is also known as mental retardation, autosomal recessive 2a;mrt2a

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development


SOURCES: MESH UMLS OMIM MONDO

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 2; MRT2

High match MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Ptosis


SOURCES: UMLS MONDO DOID GARD OMIM

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

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Other less relevant matches:

High match CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.

CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME Is also known as ;trisomy xp11.22-p11.23

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pica
  • Delayed speech and language development
  • Intellectual disability, severe


SOURCES: SCTID DOID ORPHANET MESH UMLS MONDO GARD OMIM

More info about CHROMOSOME Xp11.23-p11.22 DUPLICATION SYNDROME

High match LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI

LADCI is an autosomal recessive neurodevelopmental disorder characterized by severe expressive and receptive language delay apparent from early childhood. Affected individuals have additional developmental or behavioral abnormalities, including attention deficit, hyperactivity, or mild intellectual disability. Some patients develop cardiac arrhythmias reminiscent of sick sinus syndrome (summary by Lodder et al., 2016 and Shamseldin et al., 2016).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: UMLS MONDO OMIM

More info about LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA; LADCI

High match ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Hyperreflexia


SOURCES: MESH MONDO OMIM UMLS

More info about ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED; RESDX

High match MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE

FRAXE mental retardation is a form of mild to moderate mental retardation associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior (summary by Bensaid et al., 2009). FRAXE is associated with a fragile site on chromosome Xq28 and is the cause of nonsyndromic X-linked mental retardation in 1 of 50,000 newborn males. The disorder can be caused either by silencing of the FMR2 gene as a consequence of a CCG expansion located upstream of this gene or by deletion within the gene (Stettner et al., 2011).

MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE Is also known as fraxe mental retardation syndrome;intellectual disability associated with fragile site fraxe

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Epicanthus


SOURCES: MONDO GARD OMIM ORPHANET SCTID

More info about MENTAL RETARDATION, X-LINKED, ASSOCIATED WITH FRAGILE SITE FRAXE

High match MENTAL RETARDATION, X-LINKED 9; MRX9

Nonsyndromic mental retardation.

MENTAL RETARDATION, X-LINKED 9; MRX9 Is also known as mental retardation, x-linked 44;mrx44

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Depressed nasal bridge


SOURCES: MESH UMLS OMIM MONDO

More info about MENTAL RETARDATION, X-LINKED 9; MRX9

High match HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4

Mild non-BH4-deficient hyperphenylalaninemia (HPANBH4) is an autosomal recessive disorder characterized by increased serum phenylalanine usually detected by newborn screening and associated with highly variable neurologic defects, including movement abnormalities and intellectual disability. Laboratory analysis shows dopamine and serotonin deficiencies in the cerebrospinal fluid, and normal BH4 metabolism. Evidence suggests that treatment with neurotransmitter precursors can lead to clinical improvement or even prevent the neurologic defects if started in infancy (summary by Anikster et al., 2017).

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia


SOURCES: ORPHANET OMIM UMLS MONDO

More info about HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT; HPANBH4

High match BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Hepatomegaly


SOURCES: DOID MONDO OMIM UMLS

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6; CBAS6

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Intellectual disability, mild

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Autosomal recessive inheritance Uncommon - Between 30% and 50% cases
Attention deficit hyperactivity disorder Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Delayed speech and language development and Intellectual disability, mild. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Aggressive behavior

Rare Symptoms - Less than 30% cases


Hyperactivity Obesity X-linked recessive inheritance Behavioral abnormality Generalized hypotonia Autism Autosomal dominant inheritance X-linked inheritance Motor delay Microcephaly Short stature Nystagmus Abnormality of the distal phalanx of finger Periorbital fullness Long palpebral fissure Delayed gross motor development Intellectual disability, progressive Impaired social interactions Thick lower lip vermilion Autistic behavior Macrotia Depressed nasal bridge Cognitive impairment Dystonia Agitation Obsessive-compulsive behavior Impulsivity Prominent nasal bridge Hypertonia Hepatomegaly Muscular hypotonia of the trunk Malabsorption Vitamin D deficiency Vertical supranuclear gaze palsy Fat malabsorption Steatorrhea Slurred speech Cholestasis Cirrhosis Hepatic steatosis Dysmetria Abnormality of the nervous system Parkinsonism Elevated hepatic transaminase Gait ataxia Infantile onset Pain Ataxia Hyperphenylalaninemia Hypomimic face Broad-based gait Bradykinesia Intellectual disability, moderate Focal seizures Abnormality of metabolism/homeostasis Pes cavus Nasal speech Hoarse voice Absence seizures X-linked dominant inheritance Poor speech Toe syndactyly EEG abnormality Pes planus Syndactyly Increased body weight Intellectual disability, severe Pica Mood swings Wide mouth Milia Abnormal facial shape Ptosis Hypertelorism Febrile seizures Precocious puberty Overweight Epicanthus Neurological speech impairment Generalized hyperreflexia Frontoparietal polymicrogyria Perisylvian polymicrogyria Speech apraxia Muscle fibrillation Drooling Polymicrogyria Pruritus Clonus Shyness Hyperreflexia Receptive language delay Sick sinus syndrome Sinus bradycardia Keratoconus Bradycardia Arrhythmia EEG with centrotemporal focal spike waves Intellectual disability, borderline Hypolipidemia



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