Delayed speech and language development, and Hypertrichosis

Diseases related with Delayed speech and language development and Hypertrichosis

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


Top matches:

Low match MENTAL RETARDATION, X-LINKED 97; MRX97

MENTAL RETARDATION, X-LINKED 97; MRX97 Is also known as mental retardation, x-linked 65;mrx65, mrxz

Related symptoms:

  • Intellectual disability
  • Motor delay
  • Delayed speech and language development
  • Prominent forehead
  • Macrotia


SOURCES: MONDO UMLS OMIM MESH

More info about MENTAL RETARDATION, X-LINKED 97; MRX97

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Motor delay


SOURCES: GARD MONDO OMIM UMLS DOID

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 29; MRD29

Low match KLEEFSTRA SYNDROME 2; KLEFS2

Kleefstra syndrome-2 is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features (summary by Koemans et al., 2017).For a discussion of genetic heterogeneity of Kleefstra syndrome, see KLEFS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM

More info about KLEEFSTRA SYNDROME 2; KLEFS2

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Other less relevant matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23

EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23 Is also known as ;epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Visual impairment
  • Wide nasal bridge


SOURCES: OMIM ORPHANET UMLS MONDO

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23; EIEE23

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17

Autosomal recessive spinocerebellar ataxia-17 is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variable intellectual disability (summary by Evers et al., 2016).

SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17 Is also known as ;scar17; spinocerebellar ataxia autosomal recessive type 17

Related symptoms:

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


SOURCES: DOID UMLS ORPHANET MONDO OMIM

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17; SCAR17

Low match SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53

SPG53 is an autosomal recessive neurologic disorder characterized by onset in infancy of delayed motor development progressing to upper and lower limb spasticity with impaired walking. Affected individuals also show mild to moderate cognitive impairment (summary by Zivony-Elboum et al., 2012).

SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53 Is also known as ;spg53

Related symptoms:

  • Autosomal recessive inheritance
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive


SOURCES: DOID OMIM ORPHANET UMLS MONDO

More info about SPASTIC PARAPLEGIA 53, AUTOSOMAL RECESSIVE; SPG53

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Related symptoms:

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


SOURCES: OMIM UMLS MONDO MESH

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13

Low match SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

gene, localised to the p11.21 region of the X chromosome.

SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD Is also known as mental retardation, x-linked, syndromic, siderius type, siderius-hamel syndrome;

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Cryptorchidism
  • Nevus
  • Delayed speech and language development


SOURCES: ORPHANET MONDO GARD DOID OMIM UMLS MESH

More info about SIDERIUS X-LINKED MENTAL RETARDATION SYNDROME; MRXSSD

Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39; MRT39

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39; MRT39 Is also known as ;

Related symptoms:

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


SOURCES: UMLS OMIM ORPHANET MONDO

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39; MRT39

Low match PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1

Cortical dysplasia-focal epilepsy syndrome is a rare genetic epilepsy characterized by relatively large head circumference or macrocephaly, diminished or absent deep-tendon reflexes and mild gross motor delay in infancy, followed by intractable focal seizures with language regression, behavioral abnormalities (hyperactivity, attention deficit, aggressive/autoaggressive behavior, autistic features) and intellectual disability later in life.

PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1 Is also known as cortical dysplasia-focal epilepsy syndrome;cdfes;cdfe syndrome; cdfes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Pica


SOURCES: OMIM ORPHANET UMLS

More info about PITT-HOPKINS-LIKE SYNDROME 1; PTHSL1

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Hypertrichosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Synophrys Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Uncommon - Between 30% and 50% cases
Mendelian

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Other less frequent symptoms

Patients with Delayed speech and language development and Hypertrichosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Motor delay Autosomal recessive inheritance Generalized hypotonia Infantile onset Hyperactivity Abnormal facial shape Scoliosis Mild microcephaly Absent speech Brachycephaly Long face Short stature Hypertelorism Aggressive behavior Thick eyebrow

Rare Symptoms - Less than 30% cases


Stereotypy Wide nasal bridge Short philtrum Abnormality of the cerebral white matter Cortical dysplasia Hypoplasia of the corpus callosum Low anterior hairline Intellectual disability, severe Thick vermilion border Cleft upper lip Ataxia Dystonia Cerebellar hypoplasia Autistic behavior Bruxism Slender finger Developmental regression Spasticity Cleft lip Sloping forehead Broad nasal tip Ptosis Poor speech Autism Coarse facial features Upslanted palpebral fissure Macrotia Intellectual disability, moderate Behavioral abnormality Kyphosis Loss of consciousness Overweight Delayed gross motor development Unilateral cleft lip Horizontal eyebrow Hyporeflexia Abnormality of the cerebellar vermis Cryptorchidism Truncal obesity Atrial septal defect Intellectual disability, mild X-linked recessive inheritance Nevus Febrile seizures Progressive microcephaly Postnatal microcephaly Hypotelorism Hyperventilation Pes planus Round face Downturned corners of mouth Smooth philtrum Impaired social interactions Unilateral ptosis Neonatal hypotonia Obesity Flared nostrils Short neck Polydactyly Low posterior hairline Relative macrocephaly Strabismus Macrocephaly Milia Pica Anteverted ears Abnormality of the genital system Lymphopenia Wide mouth Upper limb hypertonia Prominent nose Deeply set eye Kyphoscoliosis Recurrent infections Abnormality of the nervous system Abnormality of the dentition Long toe Decreased testicular size Apnea Bilateral cleft lip Bilateral cleft lip and palate Thoracic kyphosis Preaxial polydactyly Neurological speech impairment Preaxial hand polydactyly Focal seizures Large hands Prominent supraorbital ridges Nasal speech Oral cleft Reduced tendon reflexes Tics Growth delay Monotonic speech Abnormality of the auditory canal Epileptic encephalopathy Telecanthus Abnormality of the pinna Prominent nasal bridge Narrow forehead Cortical visual impairment Hypsarrhythmia Long eyelashes Blindness Hypoplasia of the pons Periorbital fullness Dysarthria Hyperreflexia Tremor Cerebellar atrophy Arrhythmia Anteverted nares Agenesis of corpus callosum Downslanted palpebral fissures Prominent forehead X-linked inheritance Broad face Autosomal dominant inheritance Low-set ears High palate EEG abnormality Visual impairment Thin upper lip vermilion Attention deficit hyperactivity disorder Dental crowding Narrow palate Pointed chin Midface retrusion Everted lower lip vermilion Babinski sign Gait ataxia Hyperreflexia in upper limbs Clonus Hearing impairment Failure to thrive Cognitive impairment Ventriculomegaly Gait disturbance Hypertonia Difficulty walking Thoracic hemivertebrae Pectus carinatum Joint hyperflexibility Spastic paraplegia Paraplegia Impaired vibratory sensation Limb dystonia Impaired proprioception Abnormality of the distal phalanx of the thumb Nonprogressive cerebellar ataxia Slow progression Cerebellar vermis hypoplasia Abnormality of movement Unsteady gait Dysmetria Falls Apraxia Intention tremor Frequent falls Nonprogressive Clumsiness Truncal ataxia Horizontal nystagmus Hemivertebrae Oculomotor apraxia Infantile muscular hypotonia Slurred speech Progressive language deterioration


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Sloping forehead, related diseases and genetic alterations Motor delay and Interphalangeal joint contracture of finger, related diseases and genetic alterations