Delayed speech and language development, and Aganglionic megacolon

Diseases related with Delayed speech and language development and Aganglionic megacolon

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


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Medium match CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED

X-linked complicated corpus callosum dysgenesis is a historical term used to describe a phenotype now considered to be part of the L1 clinical spectrum (L1 syndrome, see this term). The disorder is characterized by variable spastic paraplegia, mild to moderate intellectual deficit, and dysplasia, hypoplasia or aplasia of the corpus callosum.

CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED Is also known as ;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Motor delay


SOURCES: GARD OMIM ORPHANET UMLS MESH MONDO

More info about CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED

Medium match CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB

The deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene (OMIM ), is associated with a highly penetrant form of isolated severe early-onset obesity as well as obesity with developmental delay (summary by Bachmann-Gagescu et al., 2010).An extended 1.7-Mb deletion of chromosome 16p11.2 containing both the 220-kb region and the proximal 593-kb region associated autism (see {611913}) has been reported in 2 patients with a syndrome of autism, mental retardation, and obesity and in 2 patients with pervasive developmental disorder, auditory processing difficulties, and attention deficit-hyperactivity disorder but not obesity.For a phenotypic description and a discussion of genetic heterogeneity of body mass index (BMI), see {606641}.

CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB Is also known as ;distal del(16)(p11.2); distal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Kyphosis


SOURCES: OMIM DOID MONDO ORPHANET UMLS

More info about CHROMOSOME 16p11.2 DELETION SYNDROME, 220-KB

Medium match CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

Cerebral creatine deficiency syndrome-1 is an X-linked disorder of creatine (Cr) transport characterized by mental retardation, severe speech delay, behavioral abnormalities, and seizures. It has a prevalence of 0.3 to 3.5% in males. Carrier females may show mild neuropsychologic impairment (summary by van de Kamp et al., 2011). Genetic Heterogeneity of Cerebral Creatine Deficiency SyndromeSee also CCDS2 (OMIM ), caused by mutation in the GAMT gene (OMIM ) on chromosome 19p13, and CCDS3 (OMIM ), caused by mutation in the AGAT gene (GATM ) on chromosome 15q21.

CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1 Is also known as creatine deficiency syndrome, x-linked, creatine transporter defect, mental retardation, x-linked, with seizures, short stature, and midface hypoplasia, mental retardation, x-linked, with creatine transport deficiency;creatine transporter deficiency; slc6a8 deficiency

Related symptoms:

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


SOURCES: GARD SCTID MESH DOID OMIM NCIT ORPHANET MONDO UMLS

More info about CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1

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Other less relevant matches:

Medium match HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1

Hyperphosphatasia with mental retardation syndrome-1 is an autosomal recessive disorder characterized by mental retardation, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Hyperphosphatasia with Mental Retardation SyndromeSee also HPMRS2 (OMIM ), caused by mutation in the PIGO gene (OMIM ) on chromosome 9p13; HPMRS3 (OMIM ), caused by mutation in the PGAP2 gene (OMIM ) on chromosome 11p15; HPMRS4 (OMIM ), caused by mutation in the PGAP3 gene (OMIM ) on chromosome 17q12; HPMRS5 (OMIM ), caused by mutation in the PIGW gene (OMIM ) on chromosome 17q12; and HPMRS6 (OMIM ), caused by mutation in the PIGY gene (OMIM ) on chromosome 4q22.

HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1 Is also known as mabry syndrome, glycosylphosphatidylinositol biosynthesis defect 2;gpibd2;mabry syndrome

Related symptoms:

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


SOURCES: ORPHANET SCTID OMIM UMLS MONDO

More info about HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 1; HPMRS1

Medium match LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL

MECP2 duplication syndrome is an X-linked neurodevelopmental disorder characterized by severe to profound mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as anxiety. Submicroscopic Xq28 duplications encompassing MECP2 are considered nonrecurrent events, because the breakpoint locations and rearrangement sizes vary among affected individuals (summary by Ramocki et al., 2010).

LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL Is also known as mecp2 duplication syndrome, mental retardation, x-linked, syndromic, lubs type, mental retardation, x-linked, with recurrent respiratory infections;distal duplication xq; telomeric duplication xq

Related symptoms:

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


SOURCES: ORPHANET OMIM

More info about LUBS X-LINKED MENTAL RETARDATION SYNDROME; MRXSL

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 PITT-HOPKINS SYNDROME; PTHS

The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea (Zweier et al., 2007).See also Pitt-Hopkins-like syndrome-1 (OMIM ), caused by mutation in the CNTNAP2 gene (OMIM ) on chromosome 7q35, and Pitt-Hopkins-like syndrome-2 (OMIM ), caused by mutation in the NRXN1 gene (OMIM ) on chromosome 2p16.3.

PITT-HOPKINS SYNDROME; PTHS Is also known as encephalopathy, severe epileptic, with autonomic dysfunction, mental retardation, syndromal, with intermittent hyperventilation;

Related symptoms:

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


SOURCES: UMLS OMIM ORPHANET MONDO MESH NCIT DOID SCTID GARD

More info about PITT-HOPKINS SYNDROME; PTHS

Medium match JOUBERT SYNDROME 1; JBTS1

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic 'molar tooth sign,' and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay. Other variable features include retinal dystrophy and renal anomalies (Saraiva and Baraitser, 1992; Valente et al., 2005). Genetic Heterogeneity of Joubert SyndromeSee also JBTS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q13; JBTS3 (OMIM ), caused by mutation in the AHI1 gene (OMIM ) on chromosome 6q23; JBTS4 (OMIM ), caused by mutation in the NPHP1 gene (OMIM ) on chromosome 2q13; JBTS5 (OMIM ), caused by mutation in the CEP290 gene, also called NPHP6 (OMIM ), on chromosome 12q21.32; JBTS6 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q21; JBTS7 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12.2; JBTS8 (OMIM ), caused by mutation in the ARL13B (OMIM ) on chromosome 3q11.2; JBTS9 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15.3; JBTS10 (OMIM ), caused by mutation in the CXORF5 gene (OMIM ) on chromosome Xp22.3; JBTS11 (see {613820}), caused by mutation in the TTC21B gene (OMIM ) on chromosome 2q24; JBTS12 (see {200990}), caused by mutation in the KIF7 gene (OMIM ) on chromosome 15q26; JBTS13 (OMIM ), caused by mutation in the TCTN1 gene (OMIM ) on chromosome 12q24; JBTS14 (OMIM ), caused by mutation in the TMEM237 gene (OMIM ) on chromosome 2q33; JBTS15 (OMIM ), caused by mutation in the CEP41 gene (OMIM ) on chromosome 7q32; JBTS16 (OMIM ), caused by mutation in the TMEM138 gene (OMIM ) on chromosome 11q; JBTS17 (OMIM ), caused by mutation in the C5ORF42 gene (OMIM ) on chromosome 5p13; JBTS18 (OMIM ), caused by mutation in the TCTN3 gene (OMIM ) on chromosome 10q24; JBTS19 (see {614844}), caused by mutation in the ZNF423 gene (OMIM ) on chromosome 16q12; JBTS20 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; JBTS21 (OMIM ), caused by mutation in the CSPP1 gene (OMIM ) on chromosome 8q13; JBTS22 (OMIM ), caused by mutation in the PDE6D gene (OMIM ) on chromosome 2q37; JBTS23 (OMIM ), caused by mutation in the KIAA0586 gene (OMIM ) on chromosome 14q23; JBTS24 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; JBTS25 (OMIM ), caused by mutation in the CEP104 gene (OMIM ) on chromosome 1p36; JBTS26 (OMIM ), caused by mutation in the KIAA0556 gene (OMIM ) on chromosome 16p12; JBTS27 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; JBTS28 (OMIM ), caused by mutation in the MKS1 gene (OMIM ) on chromosome 17q23; JBTS29 (see {617562}), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13; JBTS30 (OMIM ), caused by mutation in the ARMC9 gene (OMIM ) on chromosome 2q37; JBTS31 (OMIM ), caused by mutation in the CEP120 gene (OMIM ) on chromosome 5q23; JBTS32 (OMIM ), caused by mutation in the SUFU gene (OMIM ) on chromosome 10q24; and JBTS33 (OMIM ), caused by mutation in the PIBF1 gene (OMIM ) on chromosome 13q21.

JOUBERT SYNDROME 1; JBTS1 Is also known as joubert syndrome;jbts, joubert-boltshauser syndrome, cerebelloparenchymal disorder iv;cpd4, cerebellooculorenal syndrome 1;cors1;cpd iv; cerebelloparenchymal disorder iv; classic joubert syndrome; joubert syndrome type a; joubert-boltshauser syndrome; pure joubert syndrome

Related symptoms:

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


SOURCES: OMIM SCTID MONDO ORPHANET DOID

More info about JOUBERT SYNDROME 1; JBTS1

Medium match MOWAT-WILSON SYNDROME; MOWS

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease, hirschsprung disease-mental retardation syndrome

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia


SOURCES: SCTID ORPHANET OMIM UMLS

More info about MOWAT-WILSON SYNDROME; MOWS

Medium match ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1

Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (OMIM ), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012).

ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 Is also known as mandibulofacial dysostosis, treacher collins type, with limb anomalies, nager acrofacial dysostosis, afd, nager type, nager syndrome;mandibulofacial dysostosis with preaxial limb anomalies; nafd; nager acrofacial dysostosis; preaxial acrodysostosis

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Short stature
  • Pica
  • Hearing impairment


SOURCES: ORPHANET SCTID GARD MONDO MESH UMLS OMIM DOID

More info about ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1

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

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
Microcephaly Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Motor delay

Uncommon Symptoms - Between 30% and 50% cases


Constipation

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Autistic behavior Cryptorchidism Intellectual disability, severe Strabismus Hearing impairment Ptosis Ataxia Abnormal facial shape Muscular hypotonia Malar flattening Pica Neurological speech impairment Prominent nasal bridge Open mouth Midface retrusion Severe global developmental delay Short stature Scoliosis Chronic constipation Hydrocephalus Hypoplasia of the corpus callosum Macrocephaly Hypertelorism Mandibular prognathia Iris coloboma Coloboma Low-set ears Aggressive behavior Nystagmus Patent ductus arteriosus Downslanted palpebral fissures Epicanthus Tics Cupped ear Tapered finger Autosomal recessive inheritance Growth delay Cleft upper lip Cleft palate Wide nasal bridge Ventricular septal defect Short philtrum Gait disturbance Posteriorly rotated ears Nevus Aplasia/Hypoplasia of the corpus callosum Retinal dystrophy Spasticity Hyperactivity X-linked recessive inheritance Autosomal dominant inheritance Agenesis of corpus callosum

Rare Symptoms - Less than 30% cases


Supernumerary nipple Thickened helices Misalignment of teeth Abnormal palate morphology Widely spaced teeth Depressed nasal bridge Tented upper lip vermilion Pectus excavatum Hypospadias Abnormal pattern of respiration Hepatic fibrosis Short toe Sparse scalp hair Pneumonia Happy demeanor Downturned corners of mouth Breathing dysregulation Micrognathia Telecanthus Polymicrogyria Abnormality of cardiovascular system morphology Tetralogy of Fallot Cleft lip Hallux valgus Hydronephrosis Highly arched eyebrow Macrotia Depressivity Micropenis Postaxial hand polydactyly Situs inversus totalis Clubbing Foot polydactyly Coarse facial features Astigmatism Anteverted nares Pulmonic stenosis Clinodactyly Wide mouth Polydactyly Postnatal growth retardation Abnormality of the genital system Syndactyly Gastroesophageal reflux Apnea Myopia Brachydactyly High palate Deeply set eye Abdominal distention Bruxism Drooling Everted lower lip vermilion Narrow forehead Postnatal microcephaly Anxiety Joint stiffness Specific learning disability Radial deviation of finger Muscular hypotonia of the trunk Failure to thrive Abnormality of the kidney Self-mutilation Vesicoureteral reflux Stereotypy Vomiting Chorea Cognitive impairment Neonatal hypotonia Feeding difficulties Long face Cerebellar hypoplasia Abnormality of metabolism/homeostasis Feeding difficulties in infancy Intellectual disability, moderate Behavioral abnormality Attention deficit hyperactivity disorder Pes cavus Rod-cone dystrophy Obesity Atrial septal defect Narrow mouth Short nose Upslanted palpebral fissure Meningoencephalocele Brainstem dysplasia Central apnea Inferior vermis hypoplasia Occipital myelomeningocele Hemifacial spasm Dislocated radial head Enlarged fossa interpeduncularis Neonatal breathing dysregulation Abnormal saccadic eye movements Dysgenesis of the cerebellar vermis Episodic tachypnea Triangular-shaped open mouth Abnormality of the hypothalamus-pituitary axis Abnormality of ocular smooth pursuit Agenesis of cerebellar vermis Elongated superior cerebellar peduncle Frontal bossing Pain Abnormal heart morphology Delayed eruption of teeth Abnormality of the helix Abnormal cardiac septum morphology Pectus carinatum Finger syndactyly Camptodactyly of finger Hyperventilation High forehead Impaired smooth pursuit Cerebral cortical atrophy Dilatation Microphthalmia Pes valgus Fever Kyphosis Ventriculomegaly Optic nerve coloboma Narrow foot Retinal dysplasia Adducted thumb Abnormality of eye movement Abnormality of skin pigmentation X-linked inheritance Renal cyst Abnormality of the foot Abnormality of the eye Failure of eruption of permanent teeth Prominent forehead Oral cleft Heterogeneous Small cerebral cortex Intermittent hyperventilation Tremor Milia Partial agenesis of the corpus callosum Overhanging nasal tip Broad fingertip Macroglossia Apraxia Triangular nasal tip Hypoplasia of the brainstem Protruding tongue Occipital encephalocele Biparietal narrowing Retinal coloboma Abnormality of neuronal migration Molar tooth sign on MRI Cephalocele Large beaked nose Square face Chorioretinal coloboma Oculomotor apraxia Hand polydactyly Heterotopia Dandy-Walker malformation Encephalocele Cerebellar vermis hypoplasia Abnormal form of the vertebral bodies Tachypnea Oxycephaly Focal seizures Atresia of the external auditory canal Atrioventricular block Limited elbow extension Unilateral renal agenesis Non-midline cleft lip Spastic diplegia Aplasia/Hypoplasia of the eyebrow Broad hallux Triphalangeal thumb Radioulnar synostosis Urticaria Overlapping toe Hypoplasia of the radius Preauricular skin tag Hemiparesis Aortic valve stenosis Short thumb Premature birth Hypoplasia of the maxilla Toe syndactyly Hip dislocation Facial cleft Absent thumb Low-set, posteriorly rotated ears Velopharyngeal insufficiency Sparse lower eyelashes Lower eyelid coloboma Hemifacial hypoplasia Laryngeal hypoplasia Short distal phalanx of the thumb Gastroschisis Hypoplasia of the epiglottis Foot oligodactyly Mandibulofacial dysostosis Abnormality of the cervical spine Aplasia/Hypoplasia of the radius Abnormal nasal morphology Phocomelia Aqueductal stenosis Bicornuate uterus Abnormality of the lower limb Trismus Hypoplasia of the zygomatic bone Absent radius Aplasia/Hypoplasia of the thumb Microtia Skeletal dysplasia Brain atrophy Pointed chin Submucous cleft hard palate Muscle weakness Sparse eyebrow Ectopic kidney Bifid scrotum Cutaneous syndactyly Aplasia/Hypoplasia of the cerebellum Poor suck Abnormality of the genitourinary system Absence seizures Abnormal eyebrow morphology Fine hair Recurrent otitis media Coarctation of aorta Otitis media Sloping forehead Intellectual disability, mild Febrile seizures Esophagitis Esotropia External ear malformation Pulmonary artery stenosis Conductive hearing impairment Atypical absence seizures Retrognathia Congestive heart failure Abnormality of the skeletal system Respiratory insufficiency Talipes equinovarus Pulmonary artery sling Generalized muscle hypertrophy Uplifted earlobe Typical absence seizures Esodeviation Drowsiness Subglottic stenosis Broad eyebrow Deep plantar creases Prominent nasal tip Broad columella Low hanging columella Tracheal stenosis Broad hallux phalanx Large earlobe Clubbing of fingers Mutism Echolalia Developmental regression Optic nerve hypoplasia Parkinsonism Aspiration Lower limb spasticity Intellectual disability, profound Neurodegeneration Poor speech Delayed myelination Blepharophimosis Poor head control Tall stature Respiratory tract infection Athetosis Rigidity Choreoathetosis Autism Hypothyroidism Exotropia Premature ovarian insufficiency Severe muscular hypotonia Progressive Central hypoventilation Joint hyperflexibility Visual impairment Cataract Ophthalmoplegia Hypermetropia Hostility Infantile axial hypotonia Hernia of the abdominal wall Aspiration pneumonia Infantile muscular hypotonia Joint hypermobility Abnormality of chromosome segregation Facial hypotonia Central hypotonia Hypoventilation Poor eye contact Progressive spasticity Myotonia Brachycephaly Recurrent infections Hypertension Red eye Urethral stenosis Elevated alkaline phosphatase Plagiocephaly Duodenal ulcer Inability to walk Small nail Abnormality of creatine metabolism Broad nasal tip Poor hand-eye coordination Long palpebral fissure Underfolded superior helices Short distal phalanx of finger Sensorineural hearing impairment Abnormality of the liver Nephrotic syndrome Anal atresia Abnormality of the nervous system Thin upper lip vermilion Impaired social interactions Anteriorly placed anus Clumsiness Mask-like facies Recurrent respiratory infections Narrow face Delayed skeletal maturation External ophthalmoplegia Cachexia Abnormality of the dentition Dysphagia Redundant skin Language impairment Abnormally large globe Myopathic facies Myopathy Speech apraxia Rectovestibular fistula Shortening of all distal phalanges of the fingers Delayed ossification of carpal bones Profound global developmental delay Ileus Broad forehead Irritability Acrocyanosis Migraine Full cheeks Thick vermilion border Sleep disturbance Small hand Single transverse palmar crease Thick eyebrow Arachnodactyly Renal agenesis Abnormality of the pinna Convex nasal ridge Protruding ear Pes planus Gait ataxia Low anterior hairline Encephalopathy Chronic kidney disease Short neck Hyperuricemia Wide intermamillary distance Prominent nose Hydrometrocolpos Finger clinodactyly Hiatus hernia Hodgkin lymphoma Abnormal autonomic nervous system physiology Aphasia Self-injurious behavior Dysphasia Sleep apnea Incoordination Coarse hair Hypopigmentation of the skin Short metatarsal Headache Hypopigmented skin patches Proteinuria Macule Intellectual disability, progressive Truncal ataxia Cyanosis Septate vagina Nephrogenic diabetes insipidus Renal insufficiency Paraplegia Pigmentary retinopathy Infantile onset Amenorrhea Hypertonia Postaxial polydactyly Decreased testicular size Hypodontia Hirsutism High, narrow palate Asthma Short foot Dystonia Retinal degeneration Retinopathy Hypogonadism Reduced visual acuity Diabetes mellitus Glaucoma Primary amenorrhea Dental crowding Biliary tract abnormality Broad foot Abnormality of the ovary Gait imbalance Vaginal atresia Microphallus Tapetoretinal degeneration Poor coordination Menstrual irregularities Undetectable electroretinogram Oval face Left ventricular hypertrophy Macular dystrophy Tricuspid regurgitation External genital hypoplasia Hypoplasia of the uterus Nephronophthisis Truncal obesity Moderate receptive language delay Anosmia Bicuspid aortic valve Hypoplasia of first ribs


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