Delayed speech and language development, and Primary amenorrhea

Diseases related with Delayed speech and language development and Primary amenorrhea

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


Top matches:

High match LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

Vanishing white matter leukodystrophy is an autosomal recessive neurologic disorder characterized by variable neurologic features, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging. The age at onset can range from early infancy to adulthood. Rapid neurologic deterioration can occur following minor head trauma. Female mutation carriers may develop ovarian failure, manifest as primary amenorrhea or as secondary amenorrhea lasting more than 6 months, associated with elevated gonadotropin levels at age less than 40 years (summary by Van der Knaap et al., 1998 and Schiffmann et al., 1997).

LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM Is also known as childhood ataxia with central nervous system hypomyelinization;cach, vanishing white matter leukodystrophy, cree leukoencephalopathy;cle

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Generalized hypotonia
  • Pica
  • Ataxia


SOURCES: ORPHANET OMIM

More info about LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER; VWM

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 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

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Other less relevant matches:

Medium match VELOCARDIOFACIAL SYNDROME

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome, vcf syndrome;vcfs, shprintzen vcf syndrome

Related symptoms:

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


SOURCES: OMIM

More info about VELOCARDIOFACIAL SYNDROME

Medium match DIGEORGE SYNDROME; DGS

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as chromosome 22q11.2 deletion syndrome, hypoplasia of thymus and parathyroids, third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM

More info about DIGEORGE SYNDROME; DGS

Medium match PRADER-WILLI SYNDROME; PWS

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM

More info about PRADER-WILLI SYNDROME; PWS

Medium match PITUITARY STALK INTERRUPTION SYNDROME

Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.

PITUITARY STALK INTERRUPTION SYNDROME Is also known as ectopic neurohypophysis; psis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Failure to thrive


SOURCES: ORPHANET

More info about PITUITARY STALK INTERRUPTION SYNDROME

Medium match PERRAULT SYNDROME 3; PRLTS3

Perrault syndrome (PRLTS) is an autosomal recessive disorder characterized by sensorineural hearing loss (SNHL) and premature ovarian failure (POF) secondary to ovarian dysgenesis. Affected males have SNHL but show normal pubertal development. A spectrum of additional clinical features, including cerebellar ataxia, learning disability, and peripheral neuropathy, have been described in some affected individuals (summary by Jenkinson et al., 2013).For a discussion of genetic heterogeneity of Perrault syndrome, see PRLTS1 (OMIM ).

PERRAULT SYNDROME 3; PRLTS3 Is also known as deafness, autosomal recessive 81, formerly;dfnb81, formerly

Related symptoms:

  • Autosomal recessive inheritance
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: UMLS OMIM MONDO

More info about PERRAULT SYNDROME 3; PRLTS3

Medium match SECKEL SYNDROME 7; SCKL7

Microcephalic primordial dwarfism, Dauber type is a rare, genetic developmental defect during embryogenesis characterized by severe pre- and postnatal growth retardation, severe microcephaly, severe developmental delay and intelletual disability, severe adult short stature and facial dysmorphism (incl. hypotelorism, small ears, prominent nose). Other reported features include skeletal anomalies (Madelung deformity, clinodactyly, mild lumbar scoliosis, bilateral hip dysplasia) and seizures. Absence of thelarche and menarche is also associated.

SECKEL SYNDROME 7; SCKL7 Is also known as ;

Related symptoms:

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


SOURCES: UMLS DOID OMIM ORPHANET MONDO

More info about SECKEL SYNDROME 7; SCKL7

Medium match MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1 Is also known as mssgm

Related symptoms:

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


SOURCES: UMLS OMIM

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1; MSSGM1

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

Symptoms // Phenotype % cases
Amenorrhea Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Tics

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Delayed puberty Pica Hearing impairment Hypothyroidism Scoliosis Microcephaly Obesity Nevus Hypoplasia of the uterus Hypogonadism Cognitive impairment Specific learning disability Bicuspid aortic valve Micropenis Diabetes mellitus Inflammation of the large intestine Short neck Hypoglycemia Purpura Psychosis Growth delay Intellectual disability, severe Autoimmune thrombocytopenia Milia Premature ovarian insufficiency Abnormal facial shape Strabismus Cryptorchidism Abnormality of the pinna Behavioral abnormality Nasal speech Fever Generalized hypotonia Ataxia Muscular hypotonia Mental deterioration

Rare Symptoms - Less than 30% cases


Duodenal stenosis Hemolytic anemia Gait disturbance Syndactyly Chorea Bifid uvula Abnormality of the kidney Bulbous nose Hip dysplasia Myopia Pulmonic stenosis Iris coloboma Short foot High, narrow palate Renal agenesis High palate Hypertension Tetralogy of Fallot Astigmatism Insulin resistance Cataract Nystagmus Diarrhea Low posterior hairline Hyperinsulinemia Intrauterine growth retardation Renal dysplasia Spina bifida Hypocalcemia Vomiting Narrow palpebral fissure Paraplegia Blepharophimosis Autoimmunity Osteoporosis Ventricular septal defect Anemia Cleft palate Spasticity Autosomal dominant inheritance Hypoplasia of the corpus callosum Hydrocephalus Atrial septal defect Peripheral neuropathy Abnormality of cardiovascular system morphology Dysarthria Inguinal hernia Thrombocytopenia Patent ductus arteriosus Immunodeficiency Micrognathia Recurrent infections Posteriorly rotated ears External genital hypoplasia Truncal obesity Retrognathia Abnormal heart morphology Radial deviation of finger Hyperreflexia Hyperactivity Arthritis Umbilical hernia Neoplasm Narrow mouth Macrocephaly Schizophrenia Failure to thrive Dementia Arteria lusoria Sensorineural hearing impairment Interrupted aortic arch Autoimmune hemolytic anemia Aplasia of the uterus Sacral meningocele Meningocele Juvenile rheumatoid arthritis Seborrheic dermatitis Polymicrogyria Bipolar affective disorder Esotropia Delusions Arnold-Chiari malformation Peripheral demyelination Myelomeningocele Vitiligo Posterior embryotoxon Impaired T cell function Truncus arteriosus Psychotic episodes Intellectual disability, mild Edema Aplasia of the thymus Graves disease Hypertelorism Conotruncal defect Microtia Cholelithiasis Right aortic arch Retinal vascular tortuosity Emotional lability Attention deficit hyperactivity disorder Hypogonadotrophic hypogonadism Hallucinations Hypergonadotropic hypogonadism Decreased testicular size Acne Motor delay Right aortic arch with mirror image branching Psoriasiform dermatitis Prominent nose Perimembranous ventricular septal defect Unilateral renal agenesis Hypoparathyroidism Rheumatoid arthritis Telecanthus Polyhydramnios Coarctation of aorta Upslanted palpebral fissure Exotropia Tetany Amblyopia Hypoplasia of the thymus Femoral hernia Clinodactyly Sclerocornea Prominent forehead Abnormality of the dentition Short palpebral fissure Parathyroid hypoplasia Epicanthus Feeding difficulties Depressed nasal bridge Nephrotic syndrome Myopathy Broad thumb Craniosynostosis Short philtrum Parathyroid agenesis Cleft lip Ventriculomegaly Type I truncus arteriosus Talipes equinovarus Anterior segment developmental abnormality Short nose Kyphosis Esophoria Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Congestive heart failure Hyporeflexia Perisylvian polymicrogyria Dilatation Recurrent respiratory infections Alcoholism Pain Full cheeks Osteopenia Anteverted ears Hypoplastic labia minora Narrow palm Hypopnea Temperature instability Central adrenal insufficiency Disseminated intravascular coagulation Triangular mouth Erysipelas Poor fine motor coordination Clitoral hypoplasia Abdominal obesity Frontal upsweep of hair Poor gross motor coordination Cor pulmonale Generalized hypopigmentation Labial hypoplasia Hypothermia Narrow nasal bridge Chromosome breakage Oligomenorrhea Myeloid leukemia Ocular albinism Acrocyanosis Abnormality of lipid metabolism Overweight Almond-shaped palpebral fissure Acromicria Iris hypopigmentation Hypotelorism Dorsocervical fat pad Hyperinsulinemic hypoglycemia Ketoacidosis Maternal diabetes Absence seizures Wide nose Joint laxity Acidosis Abnormality of the carpal bones Madelung deformity Central hypothyroidism Lumbar scoliosis Severe global developmental delay Death in infancy Postnatal growth retardation Severe short stature Delayed skeletal maturation Congenital sensorineural hearing impairment Lower limb spasticity Spastic paraplegia Septo-optic dysplasia Ectopic posterior pituitary Abnormality of the hypothalamus-pituitary axis Adrenal hypoplasia Diabetes insipidus Hypoplasia of penis Hypoplasia of the fovea Central hypotonia Autism Hypermetropia Gastrointestinal hemorrhage Spontaneous abortion Febrile seizures Sepsis Sleep disturbance Small hand Infertility Leukemia Tapered finger Stroke Downturned corners of mouth Arachnodactyly Short palm Growth hormone deficiency Carious teeth Genu valgum Pruritus Dolichocephaly Apnea Abnormality of the nervous system Respiratory tract infection Weight loss Sporadic Neonatal hypotonia Thin upper lip vermilion Photophobia Oligohydramnios Hypopigmentation of the skin Hypoventilation Skeletal muscle hypertrophy Striae distensae Impaired pain sensation Intestinal bleeding Hypopigmentation of hair Polyphagia Infantile muscular hypotonia Adrenal insufficiency Decreased muscle mass Failure to thrive in infancy Glucose intolerance Sleep apnea Increased body weight Large hands Type II diabetes mellitus Albinism Scrotal hypoplasia Poor suck Precocious puberty Bradycardia Aortic valve stenosis Cyanosis Clumsiness Abnormality of the cardiovascular system Cutaneous photosensitivity Decreased fetal movement Narrow forehead Hydronephrosis Holoprosencephaly Microphthalmia Dental malocclusion Dehydration Myocardial infarction Choreoathetosis Fine hair Athetosis Sparse scalp hair Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Polyneuropathy Flat occiput Sensory neuropathy Triangular face Abnormality of movement Arthrogryposis multiplex congenita Camptodactyly Prominent nasal bridge Sparse hair Protruding ear Hyperlipidemia Aplasia/Hypoplasia of the eyebrow Alopecia Progressive extrapyramidal movement disorder Glaucoma Rod-cone dystrophy Renal insufficiency Brachydactyly Visual impairment Progressive alopecia Abnormal T-wave Hypoplasia of the fallopian tube Decreased serum insulin-like growth factor 1 Sparse eyebrow Abnormal spermatogenesis Streak ovary Increased thyroid-stimulating hormone level Decreased serum estradiol Decreased serum testosterone level Anodontia Heart block Insulin-resistant diabetes mellitus High forehead Babinski sign Reduced visual acuity Abnormality of the cerebral white matter Hemiparesis Spastic gait Progressive neurologic deterioration Memory impairment Juvenile onset Gliosis Unsteady gait Lethargy Developmental regression Spastic paraparesis Distal muscle weakness Oxycephaly Encephalopathy Cerebral atrophy Coma Blindness Optic atrophy Muscle weakness Leukodystrophy Paraparesis Dystonia Cerebral hypomyelination Abnormality of metabolism/homeostasis Frontal bossing Downslanted palpebral fissures Decreased circulating progesterone Cessation of head growth Spastic hemiparesis Diffuse leukoencephalopathy Primary gonadal insufficiency CNS demyelination Leukoencephalopathy Hyperventilation Progressive encephalopathy Secondary amenorrhea Axonal degeneration Personality changes Mania Encephalitis CNS hypomyelination Abnormality of the genital system Polydactyly Hypertonia Anal stenosis Axonal loss Submucous cleft hard palate Basal ganglia calcification Abnormality of the vasculature Obsessive-compulsive behavior Abnormality of the ear Myopathic facies Hypoplasia of the brainstem Apathy Hearing abnormality Dysdiadochokinesis Abnormality of the hand Multicystic kidney dysplasia Open mouth Underdeveloped nasal alae Vesicoureteral reflux Dysmetria Renal cyst Pierre-Robin sequence Echolalia Anal atresia Central nervous system degeneration Low-set ears Flexion contracture Ptosis Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Vascular ring Perineal fistula Mood swings Abnormality of the endocrine system Paranoia Velopharyngeal insufficiency Perseveration Platybasia Giant platelets Cystic renal dysplasia Abnormality of the larynx Pulmonary artery atresia Congenital cataract Anxiety Retinopathy Asthma Nephronophthisis Clubbing Anosmia Left ventricular hypertrophy Situs inversus totalis Hepatic fibrosis Aganglionic megacolon Dental crowding Pigmentary retinopathy Macular dystrophy Postaxial hand polydactyly Postaxial polydactyly Hypodontia Retinal dystrophy Hirsutism Retinal degeneration Neurological speech impairment Coloboma Tricuspid regurgitation Foot polydactyly Aggressive behavior Nephrogenic diabetes insipidus Conductive hearing impairment Absent speech Depressivity Hernia Hypospadias Cerebellar atrophy Septate vagina Hydrometrocolpos Biliary tract abnormality Broad foot Abnormality of the ovary Gait imbalance Vaginal atresia Microphallus Tapetoretinal degeneration Poor coordination Menstrual irregularities Undetectable electroretinogram Delayed thelarche


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