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
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; MRD29Low 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
Too many results?
We can help you with your rare disease diagnosis.
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; EIEE23Low 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; SCAR17Low 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; SPG53Low match MENTAL RETARDATION, AUTOSOMAL RECESSIVE 13; MRT13
Related symptoms:
- Autosomal recessive inheritance
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
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; MRXSSDLow 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; MRT39Low 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
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 |
Accelerate your rare disease diagnosis with us
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 Cholestasis, related diseases and genetic alterations