Delayed speech and language development, and Decreased testicular size

Diseases related with Delayed speech and language development and Decreased testicular size

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


Top matches:

High 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

High match WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS

Wilson-Turner syndrome is an X-linked recessive neurologic disorder characterized by intellectual disability, dysmorphic facial features, hypogonadism, short stature, and truncal obesity. Females are unaffected (Wilson et al., 1991).

WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS Is also known as mental retardation, x-linked, syndromic 6;mrxs6, mental retardation, x-linked, with gynecomastia and obesity;wts; x-linked intellectual disability-gynecomastia-obesity syndrome

Related symptoms:

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


SOURCES: DOID ORPHANET MONDO OMIM MESH SCTID GARD UMLS

More info about WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME; WTS

Medium match CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF Is also known as mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones;forney syndrome; forney-robinson-pascoe syndrome; mitral regurgitation-deafness-skeletal anomalies syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: GARD UMLS MESH OMIM SCTID ORPHANET MONDO

More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME; CSCF

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Other less relevant matches:

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ

) gene encoding a JmjC-domain protein with histone demethylase activity.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ Is also known as mental retardation, x-linked, syndromic, jarid1c-related;mrxsj;

Related symptoms:

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


SOURCES: SCTID UMLS DOID ORPHANET MONDO OMIM MESH

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE; MRXSCJ

Medium match WOODHOUSE-SAKATI SYNDROME

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome, extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia;diabetes-hypogonadism-deafness-intellectual disability syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis


SOURCES: GARD SCTID ORPHANET OMIM MONDO UMLS MESH

More info about WOODHOUSE-SAKATI SYNDROME

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Pica


SOURCES: DOID OMIM UMLS MONDO

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35

Medium match WIEACKER-WOLFF SYNDROME; WRWF

Wieacker-Wolff syndrome is a severe X-linked recessive neurodevelopmental disorder affecting the central and peripheral nervous systems. It is characterized by onset of muscle weakness in utero (fetal akinesia). Affected boys are born with severe contractures, known as arthrogryposis, and have delayed motor development, facial and bulbar weakness, characteristic dysmorphic facial features, and skeletal abnormalities, such as hip dislocation, scoliosis, and pes equinovarus. Those that survive infancy show mental retardation. Carrier females may have mild features of the disorder (summary by Hirata et al., 2013).

WIEACKER-WOLFF SYNDROME; WRWF Is also known as wieacker syndrome, contractures of feet, muscle atrophy, and oculomotor apraxia, apraxia, oculomotor, with congenital contractures and muscle atrophy, miles-carpenter x-linked mental retardation syndrome;mcs, mental retardation, x-linked, syndromic 4;mrxs4, mental retardation, x-linked, with congenital contractures and low fingertip arches;foot contractures-muscle atrophy-oculomotor apraxia syndrome; wieacker-wolff syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM GARD MESH MONDO

More info about WIEACKER-WOLFF SYNDROME; WRWF

Medium match BARDET-BIEDL SYNDROME 1; BBS1

Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Global developmental delay
  • Pica
  • Hearing impairment


SOURCES: OMIM UMLS DOID MESH MONDO GARD EFO

More info about BARDET-BIEDL SYNDROME 1; BBS1

Medium match GLASS SYNDROME; GLASS

Glass syndrome is characterized by intellectual disability of variable severity and dysmorphic facial features, including micrognathia, downslanting palpebral fissures, cleft palate, and crowded teeth. Additional features may include seizures, joint laxity, arachnodactyly, and happy demeanor (summary by Glass et al., 1989; Urquhart et al., 2009; Rainger et al., 2014).

GLASS SYNDROME; GLASS Is also known as chromosome 2q32-q33 deletion syndrome;2q32-q33 microdeletion syndrome; del(2)(q32); del(2)(q32q33); monosomy 2q32; monosomy 2q32-q33; monosomy 2q32q33

Related symptoms:

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


SOURCES: OMIM ORPHANET GARD DOID UMLS MONDO SCTID MESH

More info about GLASS SYNDROME; GLASS

Medium match MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC

X-linked intellectual disability, Cabezas type is characterised by intellectual deficit, muscle wasting, short stature, a prominent lower lip, small testes, kyphosis and joint hyperextensibility. An abnormal gait, tremor, decreased fine motor coordination and impaired speech are also present. The syndrome has been described in six boys from three generations of the same family. Transmission is X-linked and the causative gene has been localised to the q24-q25 region of the X chromosome.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC Is also known as cabezas syndrome, mental retardation, x-linked, syndromic 15;mrxs15, mental retardation, x-linked, with short stature, hypogonadism, and abnormal gait, mental retardation, x-linked, with short stature;mrss;cabezas syndrome

Related symptoms:

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


SOURCES: GARD SCTID DOID MONDO ORPHANET UMLS OMIM

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, CABEZAS TYPE; MRXSC

Top 5 symptoms//phenotypes associated to Delayed speech and language development and Decreased testicular size

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Micropenis Strabismus Brachydactyly Micrognathia Global developmental delay Short foot X-linked recessive inheritance High palate Smooth philtrum Upslanted palpebral fissure Pes planus Absent speech Macrocephaly Growth delay Hypertelorism Hearing impairment Nevus Camptodactyly Retrognathia Hypogonadism Thin upper lip vermilion Short palm Neurological speech impairment Hyperreflexia Spasticity Truncal obesity Inguinal hernia Poor speech Mandibular prognathia Intellectual disability, severe Talipes equinovarus Wide nasal bridge Anteverted nares Long philtrum Restlessness Tapered finger Dental crowding Joint laxity Prominent nasal bridge High, narrow palate Clinodactyly of the 5th finger Protruding ear Aggressive behavior Myopia Downslanted palpebral fissures Large hands Autism Behavioral abnormality Prominent nose High forehead Kyphosis Obesity Hypermetropia Tics Intellectual disability, mild Delayed puberty

Rare Symptoms - Less than 30% cases


Ataxia Pica Dental malocclusion Amenorrhea Abnormality of movement Camptodactyly of finger Microretrognathia Intellectual disability, moderate Arthrogryposis multiplex congenita Clinodactyly Fine hair Babinski sign Oxycephaly Hyperactivity Hyperhidrosis Bulbous nose Short philtrum Primary amenorrhea Gait ataxia Sparse hair Rod-cone dystrophy Broad-based gait Peripheral neuropathy Autosomal recessive inheritance Hypospadias Hernia Syndactyly Frontal bossing Gait disturbance Distal lower limb amyotrophy Osteoporosis Febrile seizures Intrauterine growth retardation Relative macrocephaly Narrow mouth Dystonia Epicanthus Diabetes mellitus Hypothyroidism Toe syndactyly Paraplegia Cognitive impairment Skeletal muscle atrophy Hypoplasia of the uterus Abnormality of the foot Abnormality of the dentition Autosomal dominant inheritance Misalignment of teeth Hypogonadotrophic hypogonadism Specific learning disability Small hand Thick eyebrow Deeply set eye Brachycephaly Gastroesophageal reflux Pes cavus Coma Cataract Muscular hypotonia Prominent supraorbital ridges Broad nasal tip Long face Synophrys Polydactyly Posteriorly rotated ears Gynecomastia Ptosis Short neck Flexion contracture Postnatal growth retardation Low-set ears Motor delay Feeding difficulties Joint hyperflexibility Visual impairment Biliary tract abnormality Hypertension Pigmentary retinopathy Renal insufficiency Glaucoma Abnormality of the genital system Reduced visual acuity Nystagmus Hydrometrocolpos Nephrogenic diabetes insipidus Spinal deformities Broad forehead Attention deficit hyperactivity disorder U-Shaped upper lip vermilion External genital hypoplasia Anxiety Nephronophthisis Palmar hyperkeratosis Retinopathy Midface retrusion Congenital foot contractures Malar flattening Cleft palate Clubbing Septate vagina Abnormality of the ovary Anosmia Coloboma Vaginal atresia Asthma Postaxial hand polydactyly Menstrual irregularities Poor coordination Tapetoretinal degeneration Microphallus Postaxial polydactyly Aganglionic megacolon Hypodontia Hepatic fibrosis Retinal dystrophy Hirsutism Gait imbalance Retinal degeneration Situs inversus totalis Astigmatism Iris coloboma Left ventricular hypertrophy Macular dystrophy Pulmonic stenosis Broad foot Bicuspid aortic valve Foot polydactyly Radial deviation of finger Undetectable electroretinogram Abnormality of the kidney Tricuspid regurgitation Abnormality of digit Facial asymmetry Wide mouth Intention tremor Memory impairment Thick lower lip vermilion Hypoplasia of penis Macroglossia Joint hypermobility Polymicrogyria Blepharophimosis Abnormality of the pinna Acanthosis nigricans EEG abnormality Coarse facial features Immunodeficiency Hypertonia Hypoplasia of the corpus callosum Tremor Ventriculomegaly Depressed nasal bridge Short thumb Sandal gap Agenesis of lateral incisor Scaphocephaly Moderately short stature Mood swings Abdominal obesity Small earlobe Abnormality of earlobe Panhypopituitarism Abnormal hair pattern Down-sloping shoulders Striae distensae Cachexia Hypopituitarism Cerebellar vermis atrophy Biparietal narrowing Cortical gyral simplification Cortical dysplasia Abnormality of the musculature Open bite Cubitus valgus Narrow palpebral fissure Narrow jaw Narrow maxilla Abnormality of the cerebral white matter Broad thumb Abnormality of dental morphology Tented upper lip vermilion Oligodontia Dermal atrophy Hemiparesis Long eyelashes Intellectual disability, profound Thin skin Short palpebral fissure Myopathic facies Ectodermal dysplasia Convex nasal ridge Nail dysplasia Sleep disturbance Wide nose Downturned corners of mouth Arachnodactyly Thin vermilion border Talipes Tibial bowing Mania Conspicuously happy disposition Cleft soft palate Incomprehensible speech Dacryocystitis Large beaked nose Broad toe Median cleft palate Happy demeanor Toe clinodactyly Overbite Excessive salivation Bilateral talipes equinovarus Pes valgus Conical tooth Generalized osteoporosis Broad hallux phalanx High anterior hairline Narrow nose Abnormality of the periventricular white matter Overlapping toe Long nose Broad alveolar ridges Cerebellar hypoplasia Congenital contracture Macrotia Intellectual disability, progressive Decreased body weight Falls Hypoplasia of the maxilla Short distal phalanx of finger Spastic paraplegia Pectus excavatum Multiple cafe-au-lait spots Synostosis of carpals/tarsals Failure of eruption of permanent teeth Pseudoepiphyses Delayed ossification of carpal bones Fused cervical vertebrae Rib fusion Severe failure to thrive Lower limb hyperreflexia Facial hypotonia Synostosis of carpal bones Sensorineural hearing impairment Triangular face Mental deterioration Alopecia Diarrhea Abnormality of metabolism/homeostasis Edema Dysarthria Talipes calcaneovarus Progressive spastic paraplegia Small forehead Alopecia areata Low frustration tolerance Lower limb hypertonia Diastema Furrowed tongue Shuffling gait Carpal synostosis Freckling Polyneuropathy Preaxial hand polydactyly Microtia Long toe Bilateral cleft lip Bilateral cleft lip and palate Thoracic kyphosis Slender finger Preaxial polydactyly Nasal speech Emotional lability Oral cleft Sloping forehead Low posterior hairline Cleft upper lip Autistic behavior Cleft lip Atrial septal defect X-linked dominant inheritance Decreased muscle mass Congenital sensorineural hearing impairment Full cheeks Tarsal synostosis Cone-shaped epiphysis Horseshoe kidney Mitral regurgitation Recurrent otitis media Abnormal form of the vertebral bodies Mitral valve prolapse Vesicoureteral reflux Malar prominence Abnormality of the eye Telecanthus Conductive hearing impairment Severe short stature Delayed skeletal maturation Failure to thrive Short ear Sensory neuropathy Bilateral sensorineural hearing impairment Proximal placement of thumb Respiratory distress X-linked inheritance Facial palsy Kyphoscoliosis Hyperkeratosis Congenital onset Areflexia Cerebral atrophy Apnea Respiratory insufficiency Dysphagia Myopathy Muscle weakness Central hypothyroidism Mild microcephaly Spondyloepiphyseal dysplasia Hyperlordosis Distal muscle weakness Short finger Joint contracture of the hand Neonatal respiratory distress Drooling Oculomotor apraxia Cerebral palsy Narrow palate Elbow flexion contracture Exotropia Decreased fetal movement Hip dislocation Apraxia Delayed myelination Limitation of joint mobility Abnormality of eye movement Peripheral axonal neuropathy Distal amyotrophy Narrow chest Cutaneous syndactyly Progressive microcephaly Abnormality of extrapyramidal motor function Purpura Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Sparse eyebrow Aplasia/Hypoplasia of the eyebrow Flat occiput Premature ovarian insufficiency Hyperlipidemia Hallucinations Anodontia Hypergonadotropic hypogonadism Dehydration Myocardial infarction Choreoathetosis Athetosis Sparse scalp hair Psychosis Heart block Decreased serum testosterone level Epiphyseal dysplasia Anemia High myopia Single transverse palmar crease Abnormal cardiac septum morphology Dolichocephaly Neonatal hypotonia Recurrent infections Polyhydramnios Progressive alopecia Decreased serum estradiol Abnormal T-wave Hypoplasia of the fallopian tube Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Abnormal spermatogenesis Streak ovary Increased thyroid-stimulating hormone level Abnormality of toe



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